Canonical Allele Identifier: CA2580600304
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68682735C>G , CM000673.2:g.68682735C>G GRCh38
NC_000011.9:g.68450203C>G , CM000673.1:g.68450203C>G GRCh37
NC_000011.8:g.68206779C>G NCBI36
NG_052785.1:g.3261C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001748281.1:n.230+5106G>C