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1.

rs1056478 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    4:55453122 (GRCh38)
    4:56319289 (GRCh37)
    Canonical SPDI:
    NC_000004.12:55453121:C:G,NC_000004.12:55453121:C:T
    Gene:
    CLOCK (Varview), TMEM165 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0./0 (HapMap)
    G=0.0000007/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.55453122C>G, NC_000004.12:g.55453122C>T, NC_000004.11:g.56319289C>G, NC_000004.11:g.56319289C>T, NG_032881.2:g.62167C>G, NG_032881.2:g.62167C>T, NM_004898.4:c.1138G>C, NM_004898.4:c.1138G>A, NM_004898.3:c.1138G>C, NM_004898.3:c.1138G>A, XM_011534394.4:c.*816C>G, XM_011534394.4:c.*816C>T, XM_011534394.3:c.*816C>G, XM_011534394.3:c.*816C>T, XM_011534394.2:c.*816C>G, XM_011534394.2:c.*816C>T, XM_005265787.3:c.1138G>C, XM_005265787.3:c.1138G>A, XM_005265787.2:c.1138G>C, XM_005265787.2:c.1138G>A, XM_005265787.1:c.1138G>C, XM_005265787.1:c.1138G>A, XM_011534411.3:c.1138G>C, XM_011534411.3:c.1138G>A, XM_011534411.2:c.1138G>C, XM_011534411.2:c.1138G>A, XM_011534411.1:c.1138G>C, XM_011534411.1:c.1138G>A, XM_011534410.3:c.1138G>C, XM_011534410.3:c.1138G>A, XM_011534410.2:c.1138G>C, XM_011534410.2:c.1138G>A, XM_011534410.1:c.1138G>C, XM_011534410.1:c.1138G>A, NM_001267843.2:c.1138G>C, NM_001267843.2:c.1138G>A, NM_001267843.1:c.1138G>C, NM_001267843.1:c.1138G>A, XM_024454284.2:c.1138G>C, XM_024454284.2:c.1138G>A, XM_024454284.1:c.1138G>C, XM_024454284.1:c.1138G>A, XM_017008854.2:c.1138G>C, XM_017008854.2:c.1138G>A, XM_017008854.1:c.1138G>C, XM_017008854.1:c.1138G>A, XM_047416434.1:c.1138G>C, XM_047416434.1:c.1138G>A, XM_047416433.1:c.1138G>C, XM_047416433.1:c.1138G>A, XM_047416437.1:c.1138G>C, XM_047416437.1:c.1138G>A, XM_047416436.1:c.1138G>C, XM_047416436.1:c.1138G>A, XM_047416438.1:c.1138G>C, XM_047416438.1:c.1138G>A, XM_047416431.1:c.1138G>C, XM_047416431.1:c.1138G>A, XM_047416435.1:c.1138G>C, XM_047416435.1:c.1138G>A, XM_047416439.1:c.1138G>C, XM_047416439.1:c.1138G>A, XM_047416432.1:c.1138G>C, XM_047416432.1:c.1138G>A, XM_047416440.1:c.1138G>C, XM_047416440.1:c.1138G>A, NP_004889.1:p.Glu380Gln, NP_004889.1:p.Glu380Lys, XP_005265844.1:p.Glu380Gln, XP_005265844.1:p.Glu380Lys, XP_011532713.1:p.Glu380Gln, XP_011532713.1:p.Glu380Lys, XP_011532712.1:p.Glu380Gln, XP_011532712.1:p.Glu380Lys, NP_001254772.1:p.Glu380Gln, NP_001254772.1:p.Glu380Lys, XP_024310052.1:p.Glu380Gln, XP_024310052.1:p.Glu380Lys, XP_016864343.1:p.Glu380Gln, XP_016864343.1:p.Glu380Lys, XP_047272390.1:p.Glu380Gln, XP_047272390.1:p.Glu380Lys, XP_047272389.1:p.Glu380Gln, XP_047272389.1:p.Glu380Lys, XP_047272393.1:p.Glu380Gln, XP_047272393.1:p.Glu380Lys, XP_047272392.1:p.Glu380Gln, XP_047272392.1:p.Glu380Lys, XP_047272394.1:p.Glu380Gln, XP_047272394.1:p.Glu380Lys, XP_047272387.1:p.Glu380Gln, XP_047272387.1:p.Glu380Lys, XP_047272391.1:p.Glu380Gln, XP_047272391.1:p.Glu380Lys, XP_047272395.1:p.Glu380Gln, XP_047272395.1:p.Glu380Lys, XP_047272388.1:p.Glu380Gln, XP_047272388.1:p.Glu380Lys, XP_047272396.1:p.Glu380Gln, XP_047272396.1:p.Glu380Lys

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