Allele Registry

Canonical Allele Identifier: CA16446864

Gene: AVPR1A HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.63153459T>C

GRCh37 chr12:g.63547239T>C

Linked Data - Sequence & Population

gnomAD v2:

12:63547239 T / C

gnomAD v3:

12:63153459 T / C

gnomAD v4:

chr12-63153459-T-C

Joint Max Group AF 0.54421176 (AFR)

Genomes Max Group AF 0.54421176 (AFR)

Linked Data - NCBI & NCI

dbSNP:

10877969

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63153459T>C , CM000674.2:g.63153459T>C	GRCh38
NC_000012.11:g.63547239T>C , CM000674.1:g.63547239T>C	GRCh37
NC_000012.10:g.61833506T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_005269002.3:c.-2554-60A>G	XP_005269059.1:n.-2554-60A>G

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