Revel Score:
ENST00000256216
0.874
ENST00000515320
0.874
ENST00000510025 (MANE Select)
0.874
ENST00000504811
0.874
ENST00000414835
0.874
ENST00000513628
0.874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119493821G>T , CM000667.2:g.119493821G>T | GRCh38 |
| NC_000005.9:g.118829516G>T , CM000667.1:g.118829516G>T | GRCh37 |
| NC_000005.8:g.118857415G>T | NCBI36 |
| NG_008182.1:g.46369G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.743G>T | ENSP00000426272.2:p.Arg248Leu | |
| ENST00000518349.6:c.113-2722G>T | ENSP00000507185.1:n.113-2722G>T | |
| ENST00000682445.1:c.*624G>T | ENSP00000508061.1:n.*624G>T | |
| ENST00000682531.1:n.2537G>T | ||
| ENST00000682626.1:c.*249G>T | ENSP00000507857.1:n.*249G>T | |
| ENST00000682996.1:c.743G>T | ENSP00000507792.1:p.Arg248Leu | |
| ENST00000683265.1:n.2529G>T | ||
| ENST00000683371.1:c.*873G>T | ENSP00000508376.1:n.*873G>T | |
| ENST00000683372.1:n.2753G>T | ||
| ENST00000683390.1:n.2433G>T | ||
| ENST00000683549.1:n.2357G>T | ||
| ENST00000683936.1:c.*2321G>T | ENSP00000507721.1:n.*2321G>T | |
| ENST00000683974.1:n.2518G>T | ||
| ENST00000683996.1:c.332G>T | ENSP00000507060.1:p.Arg111Leu | |
| ENST00000684131.1:n.2275G>T | ||
| ENST00000684160.1:c.*433G>T | ENSP00000507821.1:n.*433G>T | |
| ENST00000684214.1:c.743G>T | ENSP00000508071.1:p.Arg248Leu | |
| ENST00000414835.7:c.818G>T | ENSP00000411960.3:p.Arg273Leu | |
| ENST00000510025.7:c.743G>T MANE Select | ENSP00000424940.3:p.Arg248Leu | |
| ENST00000643250.1:c.*615G>T | ENSP00000494737.1:n.*615G>T | |
| ENST00000644146.1:c.*2014G>T | ENSP00000494808.1:n.*2014G>T | |
| ENST00000645099.1:c.302G>T | ENSP00000496091.1:p.Arg101Leu | |
| ENST00000645702.1:c.*146G>T | ENSP00000496432.1:n.*146G>T | |
| ENST00000645832.1:c.*628G>T | ENSP00000494316.1:n.*628G>T | |
| ENST00000646058.1:c.743G>T | ENSP00000493579.1:p.Arg248Leu | |
| ENST00000646355.1:c.*749G>T | ENSP00000493801.1:n.*749G>T | |
| ENST00000646554.1:c.*721G>T | ENSP00000494542.1:n.*721G>T | |
| ENST00000647335.1:c.*710G>T | ENSP00000495180.1:n.*710G>T | |
| ENST00000647342.1:c.*674G>T | ENSP00000494992.1:n.*674G>T | |
| ENST00000256216.10:c.743G>T | ENSP00000256216.6:p.Arg248Leu | |
| ENST00000414835.6:c.323G>T | ENSP00000411960.2:p.Arg108Leu | |
| ENST00000442060.7:c.743G>T | ENSP00000390208.3:p.Arg248Leu | |
| ENST00000504811.5:c.818G>T | ENSP00000420914.1:p.Arg273Leu | |
| ENST00000509514.5:c.-142G>T | ENSP00000426272.1:n.-142G>T | |
| ENST00000510025.5:c.671G>T | ENSP00000424940.1:p.Arg224Leu | |
| ENST00000513628.5:c.332G>T | ENSP00000425993.1:p.Arg111Leu | |
| ENST00000515235.6:n.2496G>T | ||
| ENST00000515320.5:c.689G>T | ENSP00000424613.1:p.Arg230Leu | |
| ENST00000520216.5:n.4G>T | ||
| NM_000414.3:c.743G>T | NP_000405.1:p.Arg248Leu | |
| NM_001199291.2:c.818G>T | NP_001186220.1:p.Arg273Leu | |
| NM_001199292.1:c.689G>T | NP_001186221.1:p.Arg230Leu | |
| NM_001292027.1:c.671G>T | NP_001278956.1:p.Arg224Leu | |
| NM_001292028.1:c.323G>T | NP_001278957.1:p.Arg108Leu | |
| NM_000414.4:c.743G>T MANE Select | NP_000405.1:p.Arg248Leu | |
| NM_001199291.3:c.818G>T | NP_001186220.1:p.Arg273Leu | |
| NM_001199292.2:c.689G>T | NP_001186221.1:p.Arg230Leu | |
| NM_001292027.2:c.671G>T | NP_001278956.1:p.Arg224Leu | |
| NM_001292028.2:c.323G>T | NP_001278957.1:p.Arg108Leu | |
| NM_001374497.1:c.734G>T | NP_001361426.1:p.Arg245Leu | |
| NM_001374498.1:c.743G>T | NP_001361427.1:p.Arg248Leu | |
| NM_001374499.1:c.416G>T | NP_001361428.1:p.Arg139Leu | |
| NM_001374500.1:c.302G>T | NP_001361429.1:p.Arg101Leu | |
| NM_001374501.1:c.332G>T | NP_001361430.1:p.Arg111Leu | |
| NM_001374502.1:c.332G>T | NP_001361431.1:p.Arg111Leu | |
| NM_001374503.1:c.332G>T | NP_001361432.1:p.Arg111Leu | |
| NR_164653.1:n.840G>T | ||
| NR_164654.1:n.1010G>T |