Revel Score:
ENST00000340941 (MANE Select)
0.912
ENST00000323375
0.912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71656835C>T , CM000667.2:g.71656835C>T | GRCh38 |
| NC_000005.9:g.70952662C>T , CM000667.1:g.70952662C>T | GRCh37 |
| NC_000005.8:g.70988418C>T | NCBI36 |
| NG_008882.1:g.74548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.3275C>T | ||
| ENST00000505787.8:n.3498C>T | ||
| ENST00000681968.1:c.1160C>T | ENSP00000508143.1:p.Thr387Ile | |
| ENST00000681991.1:n.1751C>T | ||
| ENST00000682045.1:c.1523C>T | ENSP00000507329.1:p.Thr508Ile | |
| ENST00000682175.1:n.3499C>T | ||
| ENST00000682214.1:c.1274C>T | ENSP00000507336.1:p.Thr425Ile | |
| ENST00000682231.1:n.685C>T | ||
| ENST00000682438.1:n.3666C>T | ||
| ENST00000682499.1:n.2488C>T | ||
| ENST00000682541.1:c.*565C>T | ENSP00000507673.1:n.*565C>T | |
| ENST00000682640.1:n.1371C>T | ||
| ENST00000682667.1:n.1859C>T | ||
| ENST00000682687.1:c.*619C>T | ENSP00000507945.1:n.*619C>T | |
| ENST00000682727.1:c.1658C>T | ENSP00000507393.1:p.Thr553Ile | |
| ENST00000682876.1:c.1796C>T | ENSP00000508389.1:p.Thr599Ile | |
| ENST00000683098.1:c.*355C>T | ENSP00000507670.1:n.*355C>T | |
| ENST00000683258.1:c.*1388C>T | ENSP00000507448.1:n.*1388C>T | |
| ENST00000683339.1:c.1451C>T | ENSP00000507758.1:p.Thr484Ile | |
| ENST00000683403.1:c.1577C>T | ENSP00000507896.1:p.Thr526Ile | |
| ENST00000683429.1:c.1274C>T | ENSP00000507697.1:p.Thr425Ile | |
| ENST00000683789.1:c.1553C>T | ENSP00000507012.1:p.Thr518Ile | |
| ENST00000683847.1:n.1902C>T | ||
| ENST00000683882.1:c.*608C>T | ENSP00000506735.1:n.*608C>T | |
| ENST00000684024.1:c.*1338C>T | ENSP00000507175.1:n.*1338C>T | |
| ENST00000684132.1:c.870C>T | ||
| ENST00000684254.1:c.*1393C>T | ENSP00000508001.1:n.*1393C>T | |
| ENST00000684310.1:c.833C>T | ENSP00000507550.1:p.Thr278Ile | |
| ENST00000684473.1:n.1066C>T | ||
| ENST00000684474.1:n.1303C>T | ||
| ENST00000684530.1:c.785C>T | ENSP00000507439.1:p.Thr262Ile | |
| ENST00000684686.1:n.1286C>T | ||
| ENST00000340941.11:c.1667C>T MANE Select | ENSP00000343657.6:p.Thr556Ile | |
| ENST00000340941.10:c.1667C>T | ENSP00000343657.6:p.Thr556Ile | |
| ENST00000512218.6:c.*619C>T | ENSP00000423202.2:n.*619C>T | |
| NM_022132.4:c.1667C>T | NP_071415.1:p.Thr556Ile | |
| XM_005248567.1:c.1553C>T | XP_005248624.1:p.Thr518Ile | |
| NM_001363147.1:c.1553C>T | NP_001350076.1:p.Thr518Ile | |
| XR_001742172.1:n.1755C>T | ||
| NM_022132.5:c.1667C>T MANE Select | NP_071415.1:p.Thr556Ile |