Canonical Allele Identifier: CA125576032

Gene:

Linked Data

• dbSNP Id: rs183434133
• gnomAD v2: 5-113050523-T-C
• gnomAD v3: 5-113714826-T-C
• gnomAD v4: 5-113714826-T-C
• MyVariant Identifiers: chr5:g.113050523T>C (hg19) ; chr5:g.113714826T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113714826T>C , CM000667.2:g.113714826T>C	GRCh38
NC_000005.9:g.113050523T>C , CM000667.1:g.113050523T>C	GRCh37
NC_000005.8:g.113078422T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742840.1:n.153-18735T>C