Canonical Allele Identifier: CA12739301
Community Standard Title: NC_000008.11:g.126889758G>A
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126889758G>A , CM000670.2:g.126889758G>A GRCh38
NC_000008.10:g.127902003G>A , CM000670.1:g.127902003G>A GRCh37
NC_000008.9:g.127971185G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1300+11968G>A