Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44355379C>G , CM000682.2:g.44355379C>G | GRCh38 |
| NC_000020.10:g.42984019C>G , CM000682.1:g.42984019C>G | GRCh37 |
| NC_000020.9:g.42417433C>G | NCBI36 |
| NG_009818.1:g.4579C>G , LRG_483:g.4579C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001754617.2:n.54G>C | |
| XR_001754618.1:n.54G>C | |
| XR_936745.1:n.43G>C | |
| XR_936745.2:n.54G>C | |
| XR_936746.1:n.47G>C | |
| XR_936746.2:n.54G>C | |
| XR_936747.1:n.201+60G>C | |
| XR_936747.3:n.262+60G>C | |
| XR_936748.1:n.75-240G>C | |
| XR_936748.3:n.74-240G>C | |
| XR_936749.1:n.47G>C | |
| XR_936749.3:n.54G>C | |
| XR_936750.1:n.202+60G>C | |
| XR_936750.3:n.262+60G>C |