Canonical Allele Identifier: CA1081440067

Gene:

Linked Data

• dbSNP Id: rs1758561966
• gnomAD v3: 5-129387057-T-C
• gnomAD v4: 5-129387057-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.129387057T>C , CM000667.2:g.129387057T>C	GRCh38
NC_000005.9:g.128722750T>C , CM000667.1:g.128722750T>C	GRCh37
NC_000005.8:g.128750649T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_427770.2:n.163-1391T>C
XR_948774.1:n.235-5594T>C
XR_001742463.1:n.4089-1391T>C
XR_001742464.1:n.2019-5594T>C
XR_001742465.1:n.401-1391T>C
XR_427770.3:n.337-1391T>C