Canonical Allele Identifier: CA2766276252
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7680966C>T , CM000686.2:g.7680966C>T GRCh38
NC_000024.9:g.7549007C>T , CM000686.1:g.7549007C>T GRCh37
NC_000024.8:g.7609007C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000439805.1:n.617-17C>T