Canonical Allele Identifier: CA125576050

Gene:

Linked Data

• dbSNP Id: rs1817486
• gnomAD v2: 5-113050620-C-T
• gnomAD v3: 5-113714923-C-T
• gnomAD v4: 5-113714923-C-T
• MyVariant Identifiers: chr5:g.113050620C>T (hg19) ; chr5:g.113714923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113714923C>T , CM000667.2:g.113714923C>T	GRCh38
NC_000005.9:g.113050620C>T , CM000667.1:g.113050620C>T	GRCh37
NC_000005.8:g.113078519C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742840.1:n.153-18638C>T