Canonical Allele Identifier: CA131177569

Gene:

Linked Data

• dbSNP Id: rs960302983
• gnomAD v2: 5-162083624-C-T
• gnomAD v3: 5-162656618-C-T
• gnomAD v4: 5-162656618-C-T
• MyVariant Identifiers: chr5:g.162083624C>T (hg19) ; chr5:g.162656618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162656618C>T , CM000667.2:g.162656618C>T	GRCh38
NC_000005.9:g.162083624C>T , CM000667.1:g.162083624C>T	GRCh37
NC_000005.8:g.162016202C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742958.1:n.418+3484G>A