Canonical Allele Identifier: CA13020848

Gene:

Linked Data

• dbSNP Id: rs1231463
• gnomAD v2: 9-132339129-C-G
• gnomAD v3: 9-129576850-C-G
• gnomAD v4: 9-129576850-C-G
• MyVariant Identifiers: chr9:g.132339129C>G (hg19) ; chr9:g.129576850C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129576850C>G , CM000671.2:g.129576850C>G	GRCh38
NC_000009.11:g.132339129C>G , CM000671.1:g.132339129C>G	GRCh37
NC_000009.10:g.131378950C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_930390.1:n.182+1252C>G