Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104803G>A , CM000684.2:g.32104803G>A | GRCh38 |
| NC_000022.10:g.32500790G>A , CM000684.1:g.32500790G>A | GRCh37 |
| NC_000022.9:g.30830790G>A | NCBI36 |
| NG_017045.1:g.66772G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.1683G>A MANE Select | NP_000334.1:p.Trp561Ter |
| ENST00000266088.9:c.1683G>A MANE Select | ENSP00000266088.4:p.Trp561Ter |
| NM_000343.3:c.1683G>A | NP_000334.1:p.Trp561Ter |
| NM_001256314.1:c.1302G>A | NP_001243243.1:p.Trp434Ter |
| NM_001256314.2:c.1302G>A | NP_001243243.1:p.Trp434Ter |
| ENST00000266088.8:c.1683G>A | ENSP00000266088.4:p.Trp561Ter |
| ENST00000543737.2:c.1302G>A | ENSP00000444898.1:p.Trp434Ter |
| XR_938173.1:n.591+2035C>T | |
| XR_938174.1:n.486+15052C>T |