Revel Score:
ENST00000454575
0.203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62529349G>A , CM000663.2:g.62529349G>A | GRCh38 |
| NC_000001.10:g.62995020G>A , CM000663.1:g.62995020G>A | GRCh37 |
| NC_000001.9:g.62767608G>A | NCBI36 |
| NG_033073.1:g.164020C>T | |
| NG_033073.2:g.164020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635253.2:c.3709C>T MANE Select | ENSP00000489124.1:p.Arg1237Ter | |
| ENST00000637208.1:c.*1829C>T | ENSP00000490079.1:n.*1829C>T | |
| ENST00000637255.1:c.1009C>T | ENSP00000490888.1:p.Arg337Ter | |
| ENST00000251157.10:c.3709C>T | ENSP00000251157.6:p.Arg1237Ter | |
| ENST00000340370.10:c.3616C>T | ENSP00000340742.5:p.Arg1206Ter | |
| ENST00000454575.6:c.3709C>T | ENSP00000413583.2:p.Arg1237Ter | |
| ENST00000634264.1:c.3616C>T | ENSP00000489284.1:p.Arg1206Ter | |
| ENST00000635123.1:c.3616C>T | ENSP00000489499.1:p.Arg1206Ter | |
| ENST00000635253.1:c.3709C>T | ENSP00000489124.1:p.Arg1237Ter | |
| NM_001271999.1:c.3709C>T | NP_001258928.1:p.Arg1237Ter | |
| NM_001272000.1:c.3616C>T | NP_001258929.1:p.Arg1206Ter | |
| NM_001272001.1:c.3616C>T | NP_001258930.1:p.Arg1206Ter | |
| NM_033407.3:c.3616C>T | NP_212132.2:p.Arg1206Ter | |
| XM_005271292.1:c.3709C>T | XP_005271349.1:p.Arg1237Ter | |
| XM_011542326.1:c.3709C>T | XP_011540628.1:p.Arg1237Ter | |
| XM_011542327.1:c.3709C>T | XP_011540629.1:p.Arg1237Ter | |
| XM_011542328.1:c.3709C>T | XP_011540630.1:p.Arg1237Ter | |
| XM_011542329.1:c.3709C>T | XP_011540631.1:p.Arg1237Ter | |
| XM_011542330.1:c.3709C>T | XP_011540632.1:p.Arg1237Ter | |
| NM_001330614.1:c.3709C>T | NP_001317543.1:p.Arg1237Ter | |
| XM_011542326.2:c.3709C>T | XP_011540628.1:p.Arg1237Ter | |
| XM_011542327.2:c.3709C>T | XP_011540629.1:p.Arg1237Ter | |
| XM_011542328.2:c.3709C>T | XP_011540630.1:p.Arg1237Ter | |
| XM_011542330.2:c.3709C>T | XP_011540632.1:p.Arg1237Ter | |
| XM_017002639.1:c.3616C>T | XP_016858128.1:p.Arg1206Ter | |
| XM_017002640.1:c.3709C>T | XP_016858129.1:p.Arg1237Ter | |
| NM_001367561.1:c.3709C>T MANE Select | NP_001354490.1:p.Arg1237Ter | |
| NM_001271999.2:c.3709C>T | NP_001258928.1:p.Arg1237Ter | |
| NM_001272000.2:c.3616C>T | NP_001258929.1:p.Arg1206Ter | |
| NM_001272001.2:c.3616C>T | NP_001258930.1:p.Arg1206Ter | |
| NM_001330614.2:c.3709C>T | NP_001317543.1:p.Arg1237Ter | |
| NM_033407.4:c.3616C>T | NP_212132.2:p.Arg1206Ter |