Canonical Allele Identifier: CA2801552278
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50856985C>T , CM000676.2:g.50856985C>T GRCh38
NC_000014.8:g.51323703C>T , CM000676.1:g.51323703C>T GRCh37
NC_000014.7:g.50393453C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1113G>A
XR_943848.2:n.643+1113G>A