Revel Score:
ENST00000256216
0.954
ENST00000515320
0.954
ENST00000510025 (MANE Select)
0.954
ENST00000504811
0.954
ENST00000414835
0.954
ENST00000513628
0.954
ENST00000509514
0.954
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119525240G>T , CM000667.2:g.119525240G>T | GRCh38 |
| NC_000005.9:g.118860935G>T , CM000667.1:g.118860935G>T | GRCh37 |
| NC_000005.8:g.118888834G>T | NCBI36 |
| NG_008182.1:g.77788G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1459G>T | ENSP00000426272.2:p.Asp487Tyr | |
| ENST00000518349.6:c.772G>T | ENSP00000507185.1:p.Asp258Tyr | |
| ENST00000520244.6:n.3266G>T | ||
| ENST00000682445.1:c.*1409G>T | ENSP00000508061.1:n.*1409G>T | |
| ENST00000682531.1:n.3420G>T | ||
| ENST00000682626.1:c.*1034G>T | ENSP00000507857.1:n.*1034G>T | |
| ENST00000682996.1:c.1456G>T | ENSP00000507792.1:p.Asp486Tyr | |
| ENST00000683265.1:n.3314G>T | ||
| ENST00000683335.1:n.2930G>T | ||
| ENST00000683371.1:c.*1658G>T | ENSP00000508376.1:n.*1658G>T | |
| ENST00000683372.1:n.3538G>T | ||
| ENST00000683390.1:n.3218G>T | ||
| ENST00000683476.1:n.370G>T | ||
| ENST00000683549.1:n.3142G>T | ||
| ENST00000683936.1:c.*3106G>T | ENSP00000507721.1:n.*3106G>T | |
| ENST00000683974.1:n.3257G>T | ||
| ENST00000683996.1:c.*738G>T | ENSP00000507060.1:n.*738G>T | |
| ENST00000684131.1:n.3060G>T | ||
| ENST00000684160.1:c.*1218G>T | ENSP00000507821.1:n.*1218G>T | |
| ENST00000684214.1:c.1528G>T | ENSP00000508071.1:p.Asp510Tyr | |
| ENST00000414835.7:c.1603G>T | ENSP00000411960.3:p.Asp535Tyr | |
| ENST00000510025.7:c.1528G>T MANE Select | ENSP00000424940.3:p.Asp510Tyr | |
| ENST00000643250.1:c.*1400G>T | ENSP00000494737.1:n.*1400G>T | |
| ENST00000644146.1:c.*2799G>T | ENSP00000494808.1:n.*2799G>T | |
| ENST00000645099.1:c.1087G>T | ENSP00000496091.1:p.Asp363Tyr | |
| ENST00000645702.1:c.*931G>T | ENSP00000496432.1:n.*931G>T | |
| ENST00000645832.1:c.*1413G>T | ENSP00000494316.1:n.*1413G>T | |
| ENST00000646058.1:c.1528G>T | ENSP00000493579.1:p.Asp510Tyr | |
| ENST00000646355.1:c.*1534G>T | ENSP00000493801.1:n.*1534G>T | |
| ENST00000646554.1:c.*1506G>T | ENSP00000494542.1:n.*1506G>T | |
| ENST00000647335.1:c.*1495G>T | ENSP00000495180.1:n.*1495G>T | |
| ENST00000647342.1:c.*1459G>T | ENSP00000494992.1:n.*1459G>T | |
| ENST00000256216.10:c.1528G>T | ENSP00000256216.6:p.Asp510Tyr | |
| ENST00000414835.6:c.1108G>T | ENSP00000411960.2:p.Asp370Tyr | |
| ENST00000442060.7:c.*90G>T | ENSP00000390208.3:n.*90G>T | |
| ENST00000504811.5:c.1603G>T | ENSP00000420914.1:p.Asp535Tyr | |
| ENST00000509514.5:c.742G>T | ENSP00000426272.1:p.Asp248Tyr | |
| ENST00000510025.5:c.1456G>T | ENSP00000424940.1:p.Asp486Tyr | |
| ENST00000513628.5:c.1117G>T | ENSP00000425993.1:p.Asp373Tyr | |
| ENST00000515235.6:n.3281G>T | ||
| ENST00000515320.5:c.1474G>T | ENSP00000424613.1:p.Asp492Tyr | |
| ENST00000518349.5:n.662G>T | ||
| ENST00000520244.5:n.311G>T | ||
| ENST00000522415.5:n.195G>T | ||
| NM_000414.3:c.1528G>T | NP_000405.1:p.Asp510Tyr | |
| NM_001199291.2:c.1603G>T | NP_001186220.1:p.Asp535Tyr | |
| NM_001199292.1:c.1474G>T | NP_001186221.1:p.Asp492Tyr | |
| NM_001292027.1:c.1456G>T | NP_001278956.1:p.Asp486Tyr | |
| NM_001292028.1:c.1108G>T | NP_001278957.1:p.Asp370Tyr | |
| NM_000414.4:c.1528G>T MANE Select | NP_000405.1:p.Asp510Tyr | |
| NM_001199291.3:c.1603G>T | NP_001186220.1:p.Asp535Tyr | |
| NM_001199292.2:c.1474G>T | NP_001186221.1:p.Asp492Tyr | |
| NM_001292027.2:c.1456G>T | NP_001278956.1:p.Asp486Tyr | |
| NM_001292028.2:c.1108G>T | NP_001278957.1:p.Asp370Tyr | |
| NM_001374497.1:c.1519G>T | NP_001361426.1:p.Asp507Tyr | |
| NM_001374498.1:c.1456G>T | NP_001361427.1:p.Asp486Tyr | |
| NM_001374499.1:c.1201G>T | NP_001361428.1:p.Asp401Tyr | |
| NM_001374500.1:c.1087G>T | NP_001361429.1:p.Asp363Tyr | |
| NM_001374501.1:c.1117G>T | NP_001361430.1:p.Asp373Tyr | |
| NM_001374502.1:c.1117G>T | NP_001361431.1:p.Asp373Tyr | |
| NM_001374503.1:c.1117G>T | NP_001361432.1:p.Asp373Tyr | |
| NR_164653.1:n.1625G>T | ||
| NR_164654.1:n.1893G>T |