Canonical Allele Identifier: CA1702564123
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41782334C= , CM000669.2:g.41782334C= GRCh38
NC_000007.13:g.41821932C= , CM000669.1:g.41821932C= GRCh37
NC_000007.12:g.41788457C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745185.1:n.964+46620C=
XR_001745186.1:n.954+46630C=