Canonical Allele Identifier: CA131177555

Gene:

Linked Data

• dbSNP Id: rs901002693
• gnomAD v2: 5-162083537-C-T
• gnomAD v3: 5-162656531-C-T
• gnomAD v4: 5-162656531-C-T
• MyVariant Identifiers: chr5:g.162083537C>T (hg19) ; chr5:g.162656531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162656531C>T , CM000667.2:g.162656531C>T	GRCh38
NC_000005.9:g.162083537C>T , CM000667.1:g.162083537C>T	GRCh37
NC_000005.8:g.162016115C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742958.1:n.418+3571G>A