Revel Score:
ENST00000256216
0.911
ENST00000515320
0.911
ENST00000510025 (MANE Select)
0.911
ENST00000504811
0.911
ENST00000414835
0.911
ENST00000513628
0.911
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119493820C>T , CM000667.2:g.119493820C>T | GRCh38 |
| NC_000005.9:g.118829515C>T , CM000667.1:g.118829515C>T | GRCh37 |
| NC_000005.8:g.118857414C>T | NCBI36 |
| NG_008182.1:g.46368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.742C>T | ENSP00000426272.2:p.Arg248Cys | |
| ENST00000518349.6:c.113-2723C>T | ENSP00000507185.1:n.113-2723C>T | |
| ENST00000682445.1:c.*623C>T | ENSP00000508061.1:n.*623C>T | |
| ENST00000682531.1:n.2536C>T | ||
| ENST00000682626.1:c.*248C>T | ENSP00000507857.1:n.*248C>T | |
| ENST00000682996.1:c.742C>T | ENSP00000507792.1:p.Arg248Cys | |
| ENST00000683265.1:n.2528C>T | ||
| ENST00000683371.1:c.*872C>T | ENSP00000508376.1:n.*872C>T | |
| ENST00000683372.1:n.2752C>T | ||
| ENST00000683390.1:n.2432C>T | ||
| ENST00000683549.1:n.2356C>T | ||
| ENST00000683936.1:c.*2320C>T | ENSP00000507721.1:n.*2320C>T | |
| ENST00000683974.1:n.2517C>T | ||
| ENST00000683996.1:c.331C>T | ENSP00000507060.1:p.Arg111Cys | |
| ENST00000684131.1:n.2274C>T | ||
| ENST00000684160.1:c.*432C>T | ENSP00000507821.1:n.*432C>T | |
| ENST00000684214.1:c.742C>T | ENSP00000508071.1:p.Arg248Cys | |
| ENST00000414835.7:c.817C>T | ENSP00000411960.3:p.Arg273Cys | |
| ENST00000510025.7:c.742C>T MANE Select | ENSP00000424940.3:p.Arg248Cys | |
| ENST00000643250.1:c.*614C>T | ENSP00000494737.1:n.*614C>T | |
| ENST00000644146.1:c.*2013C>T | ENSP00000494808.1:n.*2013C>T | |
| ENST00000645099.1:c.301C>T | ENSP00000496091.1:p.Arg101Cys | |
| ENST00000645702.1:c.*145C>T | ENSP00000496432.1:n.*145C>T | |
| ENST00000645832.1:c.*627C>T | ENSP00000494316.1:n.*627C>T | |
| ENST00000646058.1:c.742C>T | ENSP00000493579.1:p.Arg248Cys | |
| ENST00000646355.1:c.*748C>T | ENSP00000493801.1:n.*748C>T | |
| ENST00000646554.1:c.*720C>T | ENSP00000494542.1:n.*720C>T | |
| ENST00000647335.1:c.*709C>T | ENSP00000495180.1:n.*709C>T | |
| ENST00000647342.1:c.*673C>T | ENSP00000494992.1:n.*673C>T | |
| ENST00000256216.10:c.742C>T | ENSP00000256216.6:p.Arg248Cys | |
| ENST00000414835.6:c.322C>T | ENSP00000411960.2:p.Arg108Cys | |
| ENST00000442060.7:c.742C>T | ENSP00000390208.3:p.Arg248Cys | |
| ENST00000504811.5:c.817C>T | ENSP00000420914.1:p.Arg273Cys | |
| ENST00000509514.5:c.-143C>T | ENSP00000426272.1:n.-143C>T | |
| ENST00000510025.5:c.670C>T | ENSP00000424940.1:p.Arg224Cys | |
| ENST00000513628.5:c.331C>T | ENSP00000425993.1:p.Arg111Cys | |
| ENST00000515235.6:n.2495C>T | ||
| ENST00000515320.5:c.688C>T | ENSP00000424613.1:p.Arg230Cys | |
| ENST00000520216.5:n.3C>T | ||
| NM_000414.3:c.742C>T | NP_000405.1:p.Arg248Cys | |
| NM_001199291.2:c.817C>T | NP_001186220.1:p.Arg273Cys | |
| NM_001199292.1:c.688C>T | NP_001186221.1:p.Arg230Cys | |
| NM_001292027.1:c.670C>T | NP_001278956.1:p.Arg224Cys | |
| NM_001292028.1:c.322C>T | NP_001278957.1:p.Arg108Cys | |
| NM_000414.4:c.742C>T MANE Select | NP_000405.1:p.Arg248Cys | |
| NM_001199291.3:c.817C>T | NP_001186220.1:p.Arg273Cys | |
| NM_001199292.2:c.688C>T | NP_001186221.1:p.Arg230Cys | |
| NM_001292027.2:c.670C>T | NP_001278956.1:p.Arg224Cys | |
| NM_001292028.2:c.322C>T | NP_001278957.1:p.Arg108Cys | |
| NM_001374497.1:c.733C>T | NP_001361426.1:p.Arg245Cys | |
| NM_001374498.1:c.742C>T | NP_001361427.1:p.Arg248Cys | |
| NM_001374499.1:c.415C>T | NP_001361428.1:p.Arg139Cys | |
| NM_001374500.1:c.301C>T | NP_001361429.1:p.Arg101Cys | |
| NM_001374501.1:c.331C>T | NP_001361430.1:p.Arg111Cys | |
| NM_001374502.1:c.331C>T | NP_001361431.1:p.Arg111Cys | |
| NM_001374503.1:c.331C>T | NP_001361432.1:p.Arg111Cys | |
| NR_164653.1:n.839C>T | ||
| NR_164654.1:n.1009C>T |