Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122459759C= , CM000672.2:g.122459759C= | GRCh38 |
| NC_000010.10:g.124219275C= , CM000672.1:g.124219275C= | GRCh37 |
| NC_000010.9:g.124209265C= | NCBI36 |
| NG_011554.1:g.3235C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648167.1:c.154+1050C= | ENSP00000498033.1:n.154+1050C= |
| XR_946382.1:n.563G= | |
| XR_946382.2:n.591G= | |
| XR_946383.1:n.563G= | |
| XR_946383.2:n.591G= | |
| XR_946384.1:n.563G= | |
| XR_946384.2:n.567G= | |
| XR_946385.1:n.563G= | |
| XR_946385.2:n.591G= |