Revel Score:
ENST00000268124 (MANE Select)
0.913
ENST00000442287
0.913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323428G>C , CM000677.2:g.89323428G>C | GRCh38 |
| NC_000015.9:g.89866659G>C , CM000677.1:g.89866659G>C | GRCh37 |
| NC_000015.8:g.87667663G>C | NCBI36 |
| NG_008218.1:g.16368C>G | |
| NG_008218.2:g.16368C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2241C>G | ENSP00000516154.1:p.Cys747Trp | |
| ENST00000268124.11:c.2241C>G MANE Select | ENSP00000268124.5:p.Cys747Trp | |
| ENST00000530292.3:c.1842C>G | ENSP00000432885.2:p.Cys614Trp | |
| ENST00000635986.2:c.2241C>G | ENSP00000490653.2:p.Cys747Trp | |
| ENST00000636774.1:c.*808C>G | ENSP00000489799.1:n.*808C>G | |
| ENST00000637238.1:c.938C>G | ENSP00000490756.1:n.938C>G | |
| ENST00000637264.1:c.1313C>G | ||
| ENST00000666746.1:c.1818C>G | ||
| ENST00000670281.1:c.561C>G | ENSP00000499709.1:p.Cys187Trp | |
| ENST00000672071.1:n.2439C>G | ||
| ENST00000672923.2:n.2344C>G | ||
| ENST00000268124.9:c.2241C>G | ENSP00000268124.5:p.Cys747Trp | |
| ENST00000442287.6:c.2241C>G | ENSP00000399851.2:p.Cys747Trp | |
| ENST00000526314.2:c.539+387C>G | ||
| ENST00000526398.1:c.390C>G | ||
| ENST00000528881.2:c.10C>G | ||
| ENST00000532584.5:n.443C>G | ||
| ENST00000631044.2:c.*1665C>G | ENSP00000486730.1:n.*1665C>G | |
| NM_001126131.1:c.2241C>G | NP_001119603.1:p.Cys747Trp | |
| NM_002693.2:c.2241C>G | NP_002684.1:p.Cys747Trp | |
| NM_001126131.2:c.2241C>G | NP_001119603.1:p.Cys747Trp | |
| NM_002693.3:c.2241C>G MANE Select | NP_002684.1:p.Cys747Trp |