Canonical Allele Identifier: CA302687946
Community Standard Title: NC_000018.10:g.70475178G>A
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.70475178G>A , CM000680.2:g.70475178G>A GRCh38
NC_000018.9:g.68142414G>A , CM000680.1:g.68142414G>A GRCh37
NC_000018.8:g.66293394G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001753496.1:n.258+10139G>A
XR_935606.1:n.190+4815G>A
XR_935606.2:n.456+4815G>A
XR_935607.1:n.190+4815G>A