Revel Score:
ENST00000340941 (MANE Select)
0.729
ENST00000323375
0.729
ENST00000509539
0.729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646223G>T , CM000667.2:g.71646223G>T | GRCh38 |
| NC_000005.9:g.70942050G>T , CM000667.1:g.70942050G>T | GRCh37 |
| NC_000005.8:g.70977806G>T | NCBI36 |
| NG_008882.1:g.63936G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2770G>T | ||
| ENST00000505787.8:n.2993G>T | ||
| ENST00000509539.3:c.488G>T | ENSP00000425474.3:n.488G>T | |
| ENST00000681968.1:c.655G>T | ENSP00000508143.1:p.Val219Phe | |
| ENST00000681991.1:n.1246G>T | ||
| ENST00000682045.1:c.1018G>T | ENSP00000507329.1:p.Val340Phe | |
| ENST00000682214.1:c.769G>T | ENSP00000507336.1:p.Val257Phe | |
| ENST00000682231.1:n.180G>T | ||
| ENST00000682438.1:n.3161G>T | ||
| ENST00000682499.1:n.1983G>T | ||
| ENST00000682541.1:c.*60G>T | ENSP00000507673.1:n.*60G>T | |
| ENST00000682640.1:n.866G>T | ||
| ENST00000682667.1:n.1327G>T | ||
| ENST00000682687.1:c.*114G>T | ENSP00000507945.1:n.*114G>T | |
| ENST00000682727.1:c.1153G>T | ENSP00000507393.1:p.Val385Phe | |
| ENST00000682876.1:c.1291G>T | ENSP00000508389.1:p.Val431Phe | |
| ENST00000683098.1:c.816G>T | ENSP00000507670.1:p.Leu272Phe | |
| ENST00000683258.1:c.*883G>T | ENSP00000507448.1:n.*883G>T | |
| ENST00000683339.1:c.946G>T | ENSP00000507758.1:p.Val316Phe | |
| ENST00000683403.1:c.1072G>T | ENSP00000507896.1:p.Val358Phe | |
| ENST00000683429.1:c.769G>T | ENSP00000507697.1:p.Val257Phe | |
| ENST00000683789.1:c.1048G>T | ENSP00000507012.1:p.Val350Phe | |
| ENST00000683847.1:n.1332G>T | ||
| ENST00000683882.1:c.*103G>T | ENSP00000506735.1:n.*103G>T | |
| ENST00000684024.1:c.*833G>T | ENSP00000507175.1:n.*833G>T | |
| ENST00000684132.1:c.90G>T | ||
| ENST00000684254.1:c.*888G>T | ENSP00000508001.1:n.*888G>T | |
| ENST00000684310.1:c.328G>T | ENSP00000507550.1:p.Val110Phe | |
| ENST00000684474.1:n.798G>T | ||
| ENST00000684530.1:c.335-2874G>T | ENSP00000507439.1:n.335-2874G>T | |
| ENST00000684686.1:n.781G>T | ||
| ENST00000340941.11:c.1162G>T MANE Select | ENSP00000343657.6:p.Val388Phe | |
| ENST00000340941.10:c.1162G>T | ENSP00000343657.6:p.Val388Phe | |
| ENST00000509539.2:c.478G>T | ENSP00000425474.2:p.Val160Phe | |
| ENST00000512218.6:c.*114G>T | ENSP00000423202.2:n.*114G>T | |
| NM_022132.4:c.1162G>T | NP_071415.1:p.Val388Phe | |
| XM_005248567.1:c.1048G>T | XP_005248624.1:p.Val350Phe | |
| NM_001363147.1:c.1048G>T | NP_001350076.1:p.Val350Phe | |
| XR_001742172.1:n.1250G>T | ||
| NM_022132.5:c.1162G>T MANE Select | NP_071415.1:p.Val388Phe |