Canonical Allele Identifier: CA779587170
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.43900562C>A , CM000680.2:g.43900562C>A GRCh38
NC_000018.9:g.41480527C>A , CM000680.1:g.41480527C>A GRCh37
NC_000018.8:g.39734525C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935415.1:n.241+28511G>T
XR_935415.2:n.244+28511G>T