Canonical Allele Identifier: CA2969346379
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999695G>T , CM000670.2:g.126999695G>T GRCh38
NC_000008.10:g.128011940G>T , CM000670.1:g.128011940G>T GRCh37
NC_000008.9:g.128081122G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-6860G>T