Canonical Allele Identifier: CA154673023
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.15703161G>C , CM000669.2:g.15703161G>C GRCh38
NC_000007.13:g.15742786G>C , CM000669.1:g.15742786G>C GRCh37
NC_000007.12:g.15709311G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927057.1:n.450+375G>C
XR_001745101.1:n.704+375G>C
XR_927057.2:n.704+375G>C