Revel Score:
ENST00000357166 (MANE Select)
0.669
ENST00000371064
0.669
ENST00000406492
0.669
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129823724G>A , CM000685.2:g.129823724G>A | GRCh38 |
| NC_000023.10:g.128957700G>A , CM000685.1:g.128957700G>A | GRCh37 |
| NC_000023.9:g.128785381G>A | NCBI36 |
| NG_021387.1:g.25211C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357166.11:c.442C>T MANE Select | ENSP00000349689.6:p.Arg148Trp | |
| ENST00000357166.10:c.442C>T | ENSP00000349689.6:p.Arg148Trp | |
| ENST00000371064.7:c.442C>T | ENSP00000360103.3:p.Arg148Trp | |
| ENST00000406492.2:c.442C>T | ENSP00000383991.2:p.Arg148Trp | |
| ENST00000433917.5:c.321C>T | ||
| ENST00000491039.1:n.65C>T | ||
| NM_001008222.2:c.442C>T | NP_001008223.1:p.Arg148Trp | |
| NM_016032.3:c.442C>T | NP_057116.2:p.Arg148Trp | |
| XM_011531347.1:c.442C>T | XP_011529649.1:p.Arg148Trp | |
| XM_011531348.1:c.442C>T | XP_011529650.1:p.Arg148Trp | |
| XM_011531348.3:c.442C>T | XP_011529650.1:p.Arg148Trp | |
| XR_001755694.2:n.836C>T | ||
| NM_016032.4:c.442C>T MANE Select | NP_057116.2:p.Arg148Trp | |
| NM_001008222.3:c.442C>T | NP_001008223.1:p.Arg148Trp |