Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44351879C>T , CM000682.2:g.44351879C>T | GRCh38 |
| NC_000020.10:g.42980519C>T , CM000682.1:g.42980519C>T | GRCh37 |
| NC_000020.9:g.42413933C>T | NCBI36 |
| NG_009818.1:g.1079C>T , LRG_483:g.1079C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001754617.2:n.486G>A | |
| XR_001754618.1:n.486G>A | |
| XR_936745.1:n.475G>A | |
| XR_936745.2:n.486G>A | |
| XR_936746.1:n.479G>A | |
| XR_936746.2:n.486G>A | |
| XR_936747.1:n.394G>A | |
| XR_936747.3:n.455G>A | |
| XR_936748.1:n.267G>A | |
| XR_936748.3:n.266G>A | |
| XR_936749.1:n.479G>A | |
| XR_936749.3:n.486G>A | |
| XR_936750.1:n.274G>A | |
| XR_936750.3:n.334G>A |