Canonical Allele Identifier: CA2741609516
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522598G>A , CM000681.2:g.7522598G>A GRCh38
NC_000019.9:g.7587484G>A , CM000681.1:g.7587484G>A GRCh37
NC_000019.8:g.7493484G>A NCBI36
NG_015806.1:g.4989G>A

Transcript Alleles

HGVS Amino-acid Change
XR_936293.1:n.926+244C>T
XR_936294.1:n.926+244C>T
XR_936295.1:n.570+244C>T
XR_936293.2:n.952+244C>T
XR_936294.2:n.952+244C>T