Revel Score:
ENST00000220058 (MANE Select)
0.862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65023754G>A , CM000677.2:g.65023754G>A | GRCh38 |
| NC_000015.9:g.65316092G>A , CM000677.1:g.65316092G>A | GRCh37 |
| NC_000015.8:g.63103145G>A | NCBI36 |
| NG_029184.1:g.10886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.460C>T MANE Select | ENSP00000220058.4:p.Arg154Cys | |
| ENST00000220058.8:c.460C>T | ENSP00000220058.4:p.Arg154Cys | |
| ENST00000543678.1:c.419+3077C>T | ENSP00000443754.1:n.419+3077C>T | |
| ENST00000558460.5:c.460C>T | ENSP00000452646.1:p.Arg154Cys | |
| ENST00000558614.1:n.421C>T | ||
| ENST00000560717.5:c.418-2138C>T | ENSP00000457257.1:n.418-2138C>T | |
| ENST00000561025.1:n.102-2138C>T | ||
| NM_139242.3:c.460C>T | NP_640335.2:p.Arg154Cys | |
| XM_005254158.3:c.205C>T | XP_005254215.1:p.Arg69Cys | |
| XM_005254158.5:c.613C>T | XP_005254215.2:p.Arg205Cys | |
| XR_001751081.1:n.628C>T | ||
| NM_139242.4:c.460C>T MANE Select | NP_640335.2:p.Arg154Cys |