Canonical Allele Identifier: CA2364011423
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.40642176C>A , CM000682.2:g.40642176C>A GRCh38
NC_000020.10:g.39270816C>A , CM000682.1:g.39270816C>A GRCh37
NC_000020.9:g.38704230C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754597.1:n.180+1735G>T