Canonical Allele Identifier: CA548664042

Gene:

Linked Data

• dbSNP Id: rs1325852376
• gnomAD v2: 3-187649383-T-A
• gnomAD v3: 3-187931595-T-A
• gnomAD v4: 3-187931595-T-A
• MyVariant Identifiers: chr3:g.187649383T>A (hg19) ; chr3:g.187931595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187931595T>A , CM000665.2:g.187931595T>A	GRCh38
NC_000003.11:g.187649383T>A , CM000665.1:g.187649383T>A	GRCh37
NC_000003.10:g.189132077T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_924814.1:n.1319A>T