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