Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725559C>G , CM000685.2:g.153725559C>G | GRCh38 |
| NC_000023.10:g.152991014C>G , CM000685.1:g.152991014C>G | GRCh37 |
| NC_000023.9:g.152644208C>G | NCBI36 |
| NG_009022.2:g.5692C>G | |
| NG_023231.1:g.4188G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.293C>G MANE Select | NP_000024.2:p.Ser98Trp |
| ENST00000218104.6:c.293C>G MANE Select | ENSP00000218104.3:p.Ser98Trp |
| NM_000033.3:c.293C>G | NP_000024.2:p.Ser98Trp |
| ENST00000218104.5:c.293C>G | ENSP00000218104.3:p.Ser98Trp |
| XR_938507.1:n.709C>G | |
| XR_938507.2:n.709C>G |