Canonical Allele Identifier: CA200491618

Gene:

Linked Data

• dbSNP Id: rs945929339
• gnomAD v2: 9-132339027-C-T
• gnomAD v3: 9-129576748-C-T
• gnomAD v4: 9-129576748-C-T
• MyVariant Identifiers: chr9:g.132339027C>T (hg19) ; chr9:g.129576748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129576748C>T , CM000671.2:g.129576748C>T	GRCh38
NC_000009.11:g.132339027C>T , CM000671.1:g.132339027C>T	GRCh37
NC_000009.10:g.131378848C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_930390.1:n.182+1150C>T