Canonical Allele Identifier: CA2136398925
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50857024G>T , CM000676.2:g.50857024G>T GRCh38
NC_000014.8:g.51323742G>T , CM000676.1:g.51323742G>T GRCh37
NC_000014.7:g.50393492G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1074C>A
XR_943848.2:n.643+1074C>A