Canonical Allele Identifier: CA803778412

Gene:

Linked Data

• dbSNP Id: rs1444151937
• gnomAD v3: 5-129387049-A-C
• gnomAD v4: 5-129387049-A-C
• MyVariant Identifiers: chr5:g.128722742A>C (hg19) ; chr5:g.129387049A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.129387049A>C , CM000667.2:g.129387049A>C	GRCh38
NC_000005.9:g.128722742A>C , CM000667.1:g.128722742A>C	GRCh37
NC_000005.8:g.128750641A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_427770.2:n.163-1399A>C
XR_948774.1:n.235-5602A>C
XR_001742463.1:n.4089-1399A>C
XR_001742464.1:n.2019-5602A>C
XR_001742465.1:n.401-1399A>C
XR_427770.3:n.337-1399A>C