Revel Score:
ENST00000256216
0.897
ENST00000515320
0.897
ENST00000510025 (MANE Select)
0.897
ENST00000504811
0.897
ENST00000414835
0.897
ENST00000513628
0.897
ENST00000509514
0.897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119525250C>T , CM000667.2:g.119525250C>T | GRCh38 |
| NC_000005.9:g.118860945C>T , CM000667.1:g.118860945C>T | GRCh37 |
| NC_000005.8:g.118888844C>T | NCBI36 |
| NG_008182.1:g.77798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1469C>T | ENSP00000426272.2:p.Pro490Leu | |
| ENST00000518349.6:c.782C>T | ENSP00000507185.1:p.Pro261Leu | |
| ENST00000520244.6:n.3276C>T | ||
| ENST00000682445.1:c.*1419C>T | ENSP00000508061.1:n.*1419C>T | |
| ENST00000682531.1:n.3430C>T | ||
| ENST00000682626.1:c.*1044C>T | ENSP00000507857.1:n.*1044C>T | |
| ENST00000682996.1:c.1466C>T | ENSP00000507792.1:p.Pro489Leu | |
| ENST00000683265.1:n.3324C>T | ||
| ENST00000683335.1:n.2940C>T | ||
| ENST00000683371.1:c.*1668C>T | ENSP00000508376.1:n.*1668C>T | |
| ENST00000683372.1:n.3548C>T | ||
| ENST00000683390.1:n.3228C>T | ||
| ENST00000683476.1:n.380C>T | ||
| ENST00000683549.1:n.3152C>T | ||
| ENST00000683936.1:c.*3116C>T | ENSP00000507721.1:n.*3116C>T | |
| ENST00000683974.1:n.3267C>T | ||
| ENST00000683996.1:c.*748C>T | ENSP00000507060.1:n.*748C>T | |
| ENST00000684131.1:n.3070C>T | ||
| ENST00000684160.1:c.*1228C>T | ENSP00000507821.1:n.*1228C>T | |
| ENST00000684214.1:c.1538C>T | ENSP00000508071.1:p.Pro513Leu | |
| ENST00000414835.7:c.1613C>T | ENSP00000411960.3:p.Pro538Leu | |
| ENST00000510025.7:c.1538C>T MANE Select | ENSP00000424940.3:p.Pro513Leu | |
| ENST00000643250.1:c.*1410C>T | ENSP00000494737.1:n.*1410C>T | |
| ENST00000644146.1:c.*2809C>T | ENSP00000494808.1:n.*2809C>T | |
| ENST00000645099.1:c.1097C>T | ENSP00000496091.1:p.Pro366Leu | |
| ENST00000645702.1:c.*941C>T | ENSP00000496432.1:n.*941C>T | |
| ENST00000645832.1:c.*1423C>T | ENSP00000494316.1:n.*1423C>T | |
| ENST00000646058.1:c.1538C>T | ENSP00000493579.1:p.Pro513Leu | |
| ENST00000646355.1:c.*1544C>T | ENSP00000493801.1:n.*1544C>T | |
| ENST00000646554.1:c.*1516C>T | ENSP00000494542.1:n.*1516C>T | |
| ENST00000647335.1:c.*1505C>T | ENSP00000495180.1:n.*1505C>T | |
| ENST00000647342.1:c.*1469C>T | ENSP00000494992.1:n.*1469C>T | |
| ENST00000256216.10:c.1538C>T | ENSP00000256216.6:p.Pro513Leu | |
| ENST00000414835.6:c.1118C>T | ENSP00000411960.2:p.Pro373Leu | |
| ENST00000442060.7:c.*100C>T | ENSP00000390208.3:n.*100C>T | |
| ENST00000504811.5:c.1613C>T | ENSP00000420914.1:p.Pro538Leu | |
| ENST00000509514.5:c.752C>T | ENSP00000426272.1:p.Pro251Leu | |
| ENST00000510025.5:c.1466C>T | ENSP00000424940.1:p.Pro489Leu | |
| ENST00000513628.5:c.1127C>T | ENSP00000425993.1:p.Pro376Leu | |
| ENST00000515235.6:n.3291C>T | ||
| ENST00000515320.5:c.1484C>T | ENSP00000424613.1:p.Pro495Leu | |
| ENST00000518349.5:n.672C>T | ||
| ENST00000520244.5:n.321C>T | ||
| ENST00000522415.5:n.205C>T | ||
| NM_000414.3:c.1538C>T | NP_000405.1:p.Pro513Leu | |
| NM_001199291.2:c.1613C>T | NP_001186220.1:p.Pro538Leu | |
| NM_001199292.1:c.1484C>T | NP_001186221.1:p.Pro495Leu | |
| NM_001292027.1:c.1466C>T | NP_001278956.1:p.Pro489Leu | |
| NM_001292028.1:c.1118C>T | NP_001278957.1:p.Pro373Leu | |
| NM_000414.4:c.1538C>T MANE Select | NP_000405.1:p.Pro513Leu | |
| NM_001199291.3:c.1613C>T | NP_001186220.1:p.Pro538Leu | |
| NM_001199292.2:c.1484C>T | NP_001186221.1:p.Pro495Leu | |
| NM_001292027.2:c.1466C>T | NP_001278956.1:p.Pro489Leu | |
| NM_001292028.2:c.1118C>T | NP_001278957.1:p.Pro373Leu | |
| NM_001374497.1:c.1529C>T | NP_001361426.1:p.Pro510Leu | |
| NM_001374498.1:c.1466C>T | NP_001361427.1:p.Pro489Leu | |
| NM_001374499.1:c.1211C>T | NP_001361428.1:p.Pro404Leu | |
| NM_001374500.1:c.1097C>T | NP_001361429.1:p.Pro366Leu | |
| NM_001374501.1:c.1127C>T | NP_001361430.1:p.Pro376Leu | |
| NM_001374502.1:c.1127C>T | NP_001361431.1:p.Pro376Leu | |
| NM_001374503.1:c.1127C>T | NP_001361432.1:p.Pro376Leu | |
| NR_164653.1:n.1635C>T | ||
| NR_164654.1:n.1903C>T |