Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726086C>T , CM000685.2:g.153726086C>T | GRCh38 |
| NC_000023.10:g.152991541C>T , CM000685.1:g.152991541C>T | GRCh37 |
| NC_000023.9:g.152644735C>T | NCBI36 |
| NG_009022.2:g.6219C>T | |
| NG_023231.1:g.3661G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.820C>T MANE Select | NP_000024.2:p.Arg274Trp |
| ENST00000218104.6:c.820C>T MANE Select | ENSP00000218104.3:p.Arg274Trp |
| NM_000033.3:c.820C>T | NP_000024.2:p.Arg274Trp |
| ENST00000218104.5:c.820C>T | ENSP00000218104.3:p.Arg274Trp |
| ENST00000370129.4:c.265C>T | ENSP00000359147.3:p.Arg89Trp |
| XR_938507.1:n.1236C>T | |
| XR_938507.2:n.1236C>T |