Canonical Allele Identifier: CA12639041
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130748625C>T , CM000669.2:g.130748625C>T GRCh38
NC_000007.13:g.130433384C>T , CM000669.1:g.130433384C>T GRCh37
NC_000007.12:g.130083924C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927976.1:n.190+10635C>T
XR_927977.1:n.190+10635C>T
XR_927978.1:n.190+10635C>T
XR_927976.2:n.178+10635C>T
XR_927977.2:n.178+10635C>T
XR_927978.2:n.178+10635C>T