Canonical Allele Identifier: CA1139045151
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8665694G>T , CM000686.2:g.8665694G>T GRCh38
NC_000024.9:g.8533735G>T , CM000686.1:g.8533735G>T GRCh37
NC_000024.8:g.8593735G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624593.1:c.-56-7004C>A ENSP00000485106.1:n.-56-7004C>A