Canonical Allele Identifier: CA2838208329
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5128313G>T , CM000674.2:g.5128313G>T GRCh38
NC_000012.11:g.5237479G>T , CM000674.1:g.5237479G>T GRCh37
NC_000012.10:g.5107740G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_931576.1:n.121+5829G>T
XR_931577.1:n.121+5829G>T
XR_001748970.1:n.104+5846G>T