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Select item 126387831.

rs12638783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:57556440 (GRCh38)
3:57542167 (GRCh37)
Canonical SPDI:: NC_000003.12:57556439:C:A,NC_000003.12:57556439:C:G
Gene:: DNAH12 (Varview), PDE12 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (TWINSUK)
A=0.0003/1 (ALSPAC)
HGVS:: NC_000003.12:g.57556440C>A, NC_000003.12:g.57556440C>G, NC_000003.11:g.57542167C>A, NC_000003.11:g.57542167C>G, NG_169939.1:g.773C>A, NG_169939.1:g.773C>G, NM_177966.7:c.61C>A, NM_177966.7:c.61C>G, NM_177966.6:c.61C>A, NM_177966.6:c.61C>G, NM_177966.5:c.61C>A, NM_177966.5:c.61C>G, NM_001322177.2:c.61C>A, NM_001322177.2:c.61C>G, NM_001322177.1:c.61C>A, NM_001322177.1:c.61C>G, NM_001322176.2:c.61C>A, NM_001322176.2:c.61C>G, NM_001322176.1:c.61C>A, NM_001322176.1:c.61C>G, NP_808881.3:p.Leu21Met, NP_808881.3:p.Leu21Val, NP_001309106.1:p.Leu21Met, NP_001309106.1:p.Leu21Val, NP_001309105.1:p.Leu21Met, NP_001309105.1:p.Leu21Val

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