Canonical Allele Identifier: CA2051037368
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.84170289G= , CM000674.2:g.84170289G= GRCh38
NC_000012.11:g.84564068G= , CM000674.1:g.84564068G= GRCh37
NC_000012.10:g.83088199G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001749234.1:n.127+16177C=
XR_001749235.1:n.127+16177C=