Canonical Allele Identifier: CA572977059

Gene:

Linked Data

• dbSNP Id: rs1429064739
• gnomAD v2: 7-13440189-T-G
• gnomAD v3: 7-13400564-T-G
• gnomAD v4: 7-13400564-T-G
• MyVariant Identifiers: chr7:g.13440189T>G (hg19) ; chr7:g.13400564T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400564T>G , CM000669.2:g.13400564T>G	GRCh38
NC_000007.13:g.13440189T>G , CM000669.1:g.13440189T>G	GRCh37
NC_000007.12:g.13406714T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90241T>G