Revel Score:
ENST00000340941 (MANE Select)
0.822
ENST00000323375
0.822
ENST00000509539
0.822
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71650145A>C , CM000667.2:g.71650145A>C | GRCh38 |
| NC_000005.9:g.70945972A>C , CM000667.1:g.70945972A>C | GRCh37 |
| NC_000005.8:g.70981728A>C | NCBI36 |
| NG_008882.1:g.67858A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.3058A>C | ||
| ENST00000505787.8:n.3281A>C | ||
| ENST00000509539.3:c.776A>C | ENSP00000425474.3:n.776A>C | |
| ENST00000681968.1:c.943A>C | ENSP00000508143.1:p.Thr315Pro | |
| ENST00000681991.1:n.1534A>C | ||
| ENST00000682045.1:c.1306A>C | ENSP00000507329.1:p.Thr436Pro | |
| ENST00000682175.1:n.797A>C | ||
| ENST00000682214.1:c.1057A>C | ENSP00000507336.1:p.Thr353Pro | |
| ENST00000682231.1:n.468A>C | ||
| ENST00000682438.1:n.3449A>C | ||
| ENST00000682499.1:n.2271A>C | ||
| ENST00000682541.1:c.*348A>C | ENSP00000507673.1:n.*348A>C | |
| ENST00000682640.1:n.1154A>C | ||
| ENST00000682667.1:n.1642A>C | ||
| ENST00000682687.1:c.*402A>C | ENSP00000507945.1:n.*402A>C | |
| ENST00000682727.1:c.1441A>C | ENSP00000507393.1:p.Thr481Pro | |
| ENST00000682876.1:c.1579A>C | ENSP00000508389.1:p.Thr527Pro | |
| ENST00000683098.1:c.*138A>C | ENSP00000507670.1:n.*138A>C | |
| ENST00000683258.1:c.*1171A>C | ENSP00000507448.1:n.*1171A>C | |
| ENST00000683339.1:c.1234A>C | ENSP00000507758.1:p.Thr412Pro | |
| ENST00000683403.1:c.1360A>C | ENSP00000507896.1:p.Thr454Pro | |
| ENST00000683429.1:c.1057A>C | ENSP00000507697.1:p.Thr353Pro | |
| ENST00000683789.1:c.1336A>C | ENSP00000507012.1:p.Thr446Pro | |
| ENST00000683847.1:n.1620A>C | ||
| ENST00000683882.1:c.*391A>C | ENSP00000506735.1:n.*391A>C | |
| ENST00000684024.1:c.*1121A>C | ENSP00000507175.1:n.*1121A>C | |
| ENST00000684132.1:c.378A>C | ||
| ENST00000684254.1:c.*1176A>C | ENSP00000508001.1:n.*1176A>C | |
| ENST00000684310.1:c.616A>C | ENSP00000507550.1:p.Thr206Pro | |
| ENST00000684473.1:n.849A>C | ||
| ENST00000684474.1:n.1086A>C | ||
| ENST00000684530.1:c.568A>C | ENSP00000507439.1:p.Thr190Pro | |
| ENST00000684686.1:n.1069A>C | ||
| ENST00000340941.11:c.1450A>C MANE Select | ENSP00000343657.6:p.Thr484Pro | |
| ENST00000340941.10:c.1450A>C | ENSP00000343657.6:p.Thr484Pro | |
| ENST00000509539.2:c.766A>C | ENSP00000425474.2:p.Thr256Pro | |
| ENST00000512218.6:c.*402A>C | ENSP00000423202.2:n.*402A>C | |
| NM_022132.4:c.1450A>C | NP_071415.1:p.Thr484Pro | |
| XM_005248567.1:c.1336A>C | XP_005248624.1:p.Thr446Pro | |
| NM_001363147.1:c.1336A>C | NP_001350076.1:p.Thr446Pro | |
| XR_001742172.1:n.1538A>C | ||
| NM_022132.5:c.1450A>C MANE Select | NP_071415.1:p.Thr484Pro |