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Select item 10620491.

rs1062049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:187286000 (GRCh38)
3:187003788 (GRCh37)
Canonical SPDI:: NC_000003.12:187285999:G:A,NC_000003.12:187285999:G:T
Gene:: MASP1 (Varview)
Functional Consequence:: missense_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/1 (ExAC)
T=0.000008/2 (TOPMED)
T=0.000013/2 (GnomAD_genomes)
T=0.000013/8 (GnomAD_exomes)
A=0.00495/1 (HapMap)
HGVS:: NC_000003.12:g.187286000G>A, NC_000003.12:g.187286000G>T, NC_000003.11:g.187003788G>A, NC_000003.11:g.187003788G>T, NG_051120.2:g.261G>A, NG_051120.2:g.261G>T, NG_029440.1:g.11023C>T, NG_029440.1:g.11023C>A, NM_001879.6:c.62C>T, NM_001879.6:c.62C>A, NM_001879.5:c.62C>T, NM_001879.5:c.62C>A, NM_139125.4:c.62C>T, NM_139125.4:c.62C>A, NM_139125.3:c.62C>T, NM_139125.3:c.62C>A, NM_001031849.3:c.62C>T, NM_001031849.3:c.62C>A, NM_001031849.2:c.62C>T, NM_001031849.2:c.62C>A, NW_025791769.1:g.95679G>A, NW_025791769.1:g.95679G>T, NP_001870.3:p.Thr21Ile, NP_001870.3:p.Thr21Asn, NP_624302.1:p.Thr21Ile, NP_624302.1:p.Thr21Asn, NP_001027019.1:p.Thr21Ile, NP_001027019.1:p.Thr21Asn

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