Revel Score:
ENST00000256216
0.842
ENST00000515320
0.842
ENST00000510025 (MANE Select)
0.842
ENST00000504811
0.842
ENST00000414835
0.842
ENST00000513628
0.842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119489219A>G , CM000667.2:g.119489219A>G | GRCh38 |
| NC_000005.9:g.118824914A>G , CM000667.1:g.118824914A>G | GRCh37 |
| NC_000005.8:g.118852813A>G | NCBI36 |
| NG_008182.1:g.41767A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.650A>G | ENSP00000426272.2:p.Tyr217Cys | |
| ENST00000518349.6:c.113-7324A>G | ENSP00000507185.1:n.113-7324A>G | |
| ENST00000682445.1:c.*531A>G | ENSP00000508061.1:n.*531A>G | |
| ENST00000682531.1:n.751A>G | ||
| ENST00000682626.1:c.*156A>G | ENSP00000507857.1:n.*156A>G | |
| ENST00000682996.1:c.650A>G | ENSP00000507792.1:p.Tyr217Cys | |
| ENST00000683265.1:n.743A>G | ||
| ENST00000683371.1:c.*780A>G | ENSP00000508376.1:n.*780A>G | |
| ENST00000683390.1:n.2340A>G | ||
| ENST00000683549.1:n.571A>G | ||
| ENST00000683936.1:c.*535A>G | ENSP00000507721.1:n.*535A>G | |
| ENST00000683974.1:n.732A>G | ||
| ENST00000683996.1:c.239A>G | ENSP00000507060.1:p.Tyr80Cys | |
| ENST00000684131.1:n.489A>G | ||
| ENST00000684160.1:c.*340A>G | ENSP00000507821.1:n.*340A>G | |
| ENST00000684214.1:c.650A>G | ENSP00000508071.1:p.Tyr217Cys | |
| ENST00000414835.7:c.725A>G | ENSP00000411960.3:p.Tyr242Cys | |
| ENST00000510025.7:c.650A>G MANE Select | ENSP00000424940.3:p.Tyr217Cys | |
| ENST00000643250.1:c.*522A>G | ENSP00000494737.1:n.*522A>G | |
| ENST00000644146.1:c.*228A>G | ENSP00000494808.1:n.*228A>G | |
| ENST00000645099.1:c.209A>G | ENSP00000496091.1:p.Tyr70Cys | |
| ENST00000645702.1:c.*53A>G | ENSP00000496432.1:n.*53A>G | |
| ENST00000645832.1:c.*535A>G | ENSP00000494316.1:n.*535A>G | |
| ENST00000646058.1:c.650A>G | ENSP00000493579.1:p.Tyr217Cys | |
| ENST00000646355.1:c.*656A>G | ENSP00000493801.1:n.*656A>G | |
| ENST00000646554.1:c.*628A>G | ENSP00000494542.1:n.*628A>G | |
| ENST00000647335.1:c.*617A>G | ENSP00000495180.1:n.*617A>G | |
| ENST00000647342.1:c.*581A>G | ENSP00000494992.1:n.*581A>G | |
| ENST00000256216.10:c.650A>G | ENSP00000256216.6:p.Tyr217Cys | |
| ENST00000414835.6:c.230A>G | ENSP00000411960.2:p.Tyr77Cys | |
| ENST00000442060.7:c.650A>G | ENSP00000390208.3:p.Tyr217Cys | |
| ENST00000504811.5:c.725A>G | ENSP00000420914.1:p.Tyr242Cys | |
| ENST00000505181.5:n.353A>G | ||
| ENST00000509514.5:c.-235A>G | ENSP00000426272.1:n.-235A>G | |
| ENST00000510025.5:c.578A>G | ENSP00000424940.1:p.Tyr193Cys | |
| ENST00000512644.1:n.218A>G | ||
| ENST00000513628.5:c.239A>G | ENSP00000425993.1:p.Tyr80Cys | |
| ENST00000515235.6:n.710A>G | ||
| ENST00000515320.5:c.596A>G | ENSP00000424613.1:p.Tyr199Cys | |
| NM_000414.3:c.650A>G | NP_000405.1:p.Tyr217Cys | |
| NM_001199291.2:c.725A>G | NP_001186220.1:p.Tyr242Cys | |
| NM_001199292.1:c.596A>G | NP_001186221.1:p.Tyr199Cys | |
| NM_001292027.1:c.578A>G | NP_001278956.1:p.Tyr193Cys | |
| NM_001292028.1:c.230A>G | NP_001278957.1:p.Tyr77Cys | |
| NM_000414.4:c.650A>G MANE Select | NP_000405.1:p.Tyr217Cys | |
| NM_001199291.3:c.725A>G | NP_001186220.1:p.Tyr242Cys | |
| NM_001199292.2:c.596A>G | NP_001186221.1:p.Tyr199Cys | |
| NM_001292027.2:c.578A>G | NP_001278956.1:p.Tyr193Cys | |
| NM_001292028.2:c.230A>G | NP_001278957.1:p.Tyr77Cys | |
| NM_001374497.1:c.641A>G | NP_001361426.1:p.Tyr214Cys | |
| NM_001374498.1:c.650A>G | NP_001361427.1:p.Tyr217Cys | |
| NM_001374499.1:c.323A>G | NP_001361428.1:p.Tyr108Cys | |
| NM_001374500.1:c.209A>G | NP_001361429.1:p.Tyr70Cys | |
| NM_001374501.1:c.239A>G | NP_001361430.1:p.Tyr80Cys | |
| NM_001374502.1:c.239A>G | NP_001361431.1:p.Tyr80Cys | |
| NM_001374503.1:c.239A>G | NP_001361432.1:p.Tyr80Cys | |
| NR_164653.1:n.729A>G | ||
| NR_164654.1:n.917A>G |