Canonical Allele Identifier: CA2782126188
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999747C>T , CM000670.2:g.126999747C>T GRCh38
NC_000008.10:g.128011992C>T , CM000670.1:g.128011992C>T GRCh37
NC_000008.9:g.128081174C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-6808C>T