Canonical Allele Identifier: CA786695550
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578223G>A , CM000666.2:g.12578223G>A GRCh38
NC_000004.11:g.12579847G>A , CM000666.1:g.12579847G>A GRCh37
NC_000004.10:g.12188945G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+31119C>T
XR_001741374.1:n.254+44432C>T
XR_925406.3:n.140+31119C>T