Revel Score:
ENST00000340941 (MANE Select)
0.735
ENST00000323375
0.735
ENST00000509539
0.735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646214A>C , CM000667.2:g.71646214A>C | GRCh38 |
| NC_000005.9:g.70942041A>C , CM000667.1:g.70942041A>C | GRCh37 |
| NC_000005.8:g.70977797A>C | NCBI36 |
| NG_008882.1:g.63927A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2761A>C | ||
| ENST00000505787.8:n.2984A>C | ||
| ENST00000509539.3:c.479A>C | ENSP00000425474.3:n.479A>C | |
| ENST00000681968.1:c.646A>C | ENSP00000508143.1:p.Thr216Pro | |
| ENST00000681991.1:n.1237A>C | ||
| ENST00000682045.1:c.1009A>C | ENSP00000507329.1:p.Thr337Pro | |
| ENST00000682214.1:c.760A>C | ENSP00000507336.1:p.Thr254Pro | |
| ENST00000682231.1:n.171A>C | ||
| ENST00000682438.1:n.3152A>C | ||
| ENST00000682499.1:n.1974A>C | ||
| ENST00000682541.1:c.*51A>C | ENSP00000507673.1:n.*51A>C | |
| ENST00000682640.1:n.857A>C | ||
| ENST00000682667.1:n.1318A>C | ||
| ENST00000682687.1:c.*105A>C | ENSP00000507945.1:n.*105A>C | |
| ENST00000682727.1:c.1144A>C | ENSP00000507393.1:p.Thr382Pro | |
| ENST00000682876.1:c.1282A>C | ENSP00000508389.1:p.Thr428Pro | |
| ENST00000683098.1:c.807A>C | ENSP00000507670.1:p.Val269= | |
| ENST00000683258.1:c.*874A>C | ENSP00000507448.1:n.*874A>C | |
| ENST00000683339.1:c.937A>C | ENSP00000507758.1:p.Thr313Pro | |
| ENST00000683403.1:c.1063A>C | ENSP00000507896.1:p.Thr355Pro | |
| ENST00000683429.1:c.760A>C | ENSP00000507697.1:p.Thr254Pro | |
| ENST00000683789.1:c.1039A>C | ENSP00000507012.1:p.Thr347Pro | |
| ENST00000683847.1:n.1323A>C | ||
| ENST00000683882.1:c.*94A>C | ENSP00000506735.1:n.*94A>C | |
| ENST00000684024.1:c.*824A>C | ENSP00000507175.1:n.*824A>C | |
| ENST00000684132.1:c.81A>C | ||
| ENST00000684254.1:c.*879A>C | ENSP00000508001.1:n.*879A>C | |
| ENST00000684310.1:c.319A>C | ENSP00000507550.1:p.Thr107Pro | |
| ENST00000684474.1:n.789A>C | ||
| ENST00000684530.1:c.335-2883A>C | ENSP00000507439.1:n.335-2883A>C | |
| ENST00000684686.1:n.772A>C | ||
| ENST00000340941.11:c.1153A>C MANE Select | ENSP00000343657.6:p.Thr385Pro | |
| ENST00000340941.10:c.1153A>C | ENSP00000343657.6:p.Thr385Pro | |
| ENST00000509539.2:c.469A>C | ENSP00000425474.2:p.Thr157Pro | |
| ENST00000512218.6:c.*105A>C | ENSP00000423202.2:n.*105A>C | |
| NM_022132.4:c.1153A>C | NP_071415.1:p.Thr385Pro | |
| XM_005248567.1:c.1039A>C | XP_005248624.1:p.Thr347Pro | |
| NM_001363147.1:c.1039A>C | NP_001350076.1:p.Thr347Pro | |
| XR_001742172.1:n.1241A>C | ||
| NM_022132.5:c.1153A>C MANE Select | NP_071415.1:p.Thr385Pro |