Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124873003T>A , CM000673.2:g.124873003T>A | GRCh38 |
| NC_000011.9:g.124742899T>A , CM000673.1:g.124742899T>A | GRCh37 |
| NC_000011.8:g.124248109T>A | NCBI36 |
| NG_016214.1:g.12595T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.1450T>A MANE Select | NP_071765.2:p.Trp484Arg |
| ENST00000397801.6:c.1450T>A MANE Select | ENSP00000380903.1:p.Trp484Arg |
| NM_022370.3:c.1450T>A | NP_071765.2:p.Trp484Arg |
| ENST00000397801.5:c.1450T>A | ENSP00000380903.1:p.Trp484Arg |
| ENST00000538940.5:c.1384T>A | ENSP00000441797.1:p.Trp462Arg |
| XM_011542953.1:c.2422T>A | XP_011541255.1:p.Trp808Arg |
| XM_017018122.1:c.1384T>A | XP_016873611.1:p.Trp462Arg |