Canonical Allele Identifier: CA803778413

Gene:

Linked Data

• dbSNP Id: rs1333843823
• gnomAD v3: 5-129387064-T-C
• gnomAD v4: 5-129387064-T-C
• MyVariant Identifiers: chr5:g.128722757T>C (hg19) ; chr5:g.129387064T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.129387064T>C , CM000667.2:g.129387064T>C	GRCh38
NC_000005.9:g.128722757T>C , CM000667.1:g.128722757T>C	GRCh37
NC_000005.8:g.128750656T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_427770.2:n.163-1384T>C
XR_948774.1:n.235-5587T>C
XR_001742463.1:n.4089-1384T>C
XR_001742464.1:n.2019-5587T>C
XR_001742465.1:n.401-1384T>C
XR_427770.3:n.337-1384T>C