Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75758492T>A , CM000679.2:g.75758492T>A | GRCh38 |
| NC_000017.10:g.73754573T>A , CM000679.1:g.73754573T>A | GRCh37 |
| NC_000017.9:g.71266168T>A | NCBI36 |
| NG_007372.1:g.42058T>A | |
| NG_008079.1:g.11708A>T | |
| NG_008079.2:g.11708A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000154.2:c.901A>T MANE Select | NP_000145.1:p.Arg301Ter |
| ENST00000588479.6:c.901A>T MANE Select | ENSP00000465930.1:p.Arg301Ter |
| NM_000154.1:c.901A>T | NP_000145.1:p.Arg301Ter |
| NM_001381985.1:c.901A>T | NP_001368914.1:p.Arg301Ter |
| ENST00000225614.6:c.901A>T | ENSP00000225614.1:p.Arg301Ter |
| ENST00000586733.1:n.27A>T | |
| ENST00000588479.5:c.901A>T | ENSP00000465930.1:p.Arg301Ter |
| ENST00000589643.1:n.28A>T | |
| ENST00000592997.5:c.277A>T | ENSP00000464765.1:p.Arg93Ter |
| ENST00000592997.6:c.811A>T | ENSP00000464765.2:p.Arg271Ter |