Canonical Allele Identifier: CA228633476
Community Standard Title: NC_000011.10:g.113485014G>A
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113485014G>A , CM000673.2:g.113485014G>A GRCh38
NC_000011.9:g.113355736G>A , CM000673.1:g.113355736G>A GRCh37
NC_000011.8:g.112860946G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948024.2:n.378+5388C>T