Canonical Allele Identifier: CA2766276258
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7680977C>G , CM000686.2:g.7680977C>G GRCh38
NC_000024.9:g.7549018C>G , CM000686.1:g.7549018C>G GRCh37
NC_000024.8:g.7609018C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000439805.1:n.617-6C>G