Canonical Allele Identifier: CA2969346380
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999697G>A , CM000670.2:g.126999697G>A GRCh38
NC_000008.10:g.128011942G>A , CM000670.1:g.128011942G>A GRCh37
NC_000008.9:g.128081124G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-6858G>A