Canonical Allele Identifier: CA2766276249
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7680958T>C , CM000686.2:g.7680958T>C GRCh38
NC_000024.9:g.7548999T>C , CM000686.1:g.7548999T>C GRCh37
NC_000024.8:g.7608999T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000439805.1:n.617-25T>C