Revel Score:
ENST00000340941 (MANE Select)
0.909
ENST00000323375
0.909
ENST00000509539
0.909
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646224T>A , CM000667.2:g.71646224T>A | GRCh38 |
| NC_000005.9:g.70942051T>A , CM000667.1:g.70942051T>A | GRCh37 |
| NC_000005.8:g.70977807T>A | NCBI36 |
| NG_008882.1:g.63937T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2771T>A | ||
| ENST00000505787.8:n.2994T>A | ||
| ENST00000509539.3:c.489T>A | ENSP00000425474.3:n.489T>A | |
| ENST00000681968.1:c.656T>A | ENSP00000508143.1:p.Val219Asp | |
| ENST00000681991.1:n.1247T>A | ||
| ENST00000682045.1:c.1019T>A | ENSP00000507329.1:p.Val340Asp | |
| ENST00000682214.1:c.770T>A | ENSP00000507336.1:p.Val257Asp | |
| ENST00000682231.1:n.181T>A | ||
| ENST00000682438.1:n.3162T>A | ||
| ENST00000682499.1:n.1984T>A | ||
| ENST00000682541.1:c.*61T>A | ENSP00000507673.1:n.*61T>A | |
| ENST00000682640.1:n.867T>A | ||
| ENST00000682667.1:n.1328T>A | ||
| ENST00000682687.1:c.*115T>A | ENSP00000507945.1:n.*115T>A | |
| ENST00000682727.1:c.1154T>A | ENSP00000507393.1:p.Val385Asp | |
| ENST00000682876.1:c.1292T>A | ENSP00000508389.1:p.Val431Asp | |
| ENST00000683098.1:c.817T>A | ENSP00000507670.1:p.Ser273Thr | |
| ENST00000683258.1:c.*884T>A | ENSP00000507448.1:n.*884T>A | |
| ENST00000683339.1:c.947T>A | ENSP00000507758.1:p.Val316Asp | |
| ENST00000683403.1:c.1073T>A | ENSP00000507896.1:p.Val358Asp | |
| ENST00000683429.1:c.770T>A | ENSP00000507697.1:p.Val257Asp | |
| ENST00000683789.1:c.1049T>A | ENSP00000507012.1:p.Val350Asp | |
| ENST00000683847.1:n.1333T>A | ||
| ENST00000683882.1:c.*104T>A | ENSP00000506735.1:n.*104T>A | |
| ENST00000684024.1:c.*834T>A | ENSP00000507175.1:n.*834T>A | |
| ENST00000684132.1:c.91T>A | ||
| ENST00000684254.1:c.*889T>A | ENSP00000508001.1:n.*889T>A | |
| ENST00000684310.1:c.329T>A | ENSP00000507550.1:p.Val110Asp | |
| ENST00000684316.1:n.1T>A | ||
| ENST00000684474.1:n.799T>A | ||
| ENST00000684530.1:c.335-2873T>A | ENSP00000507439.1:n.335-2873T>A | |
| ENST00000684686.1:n.782T>A | ||
| ENST00000340941.11:c.1163T>A MANE Select | ENSP00000343657.6:p.Val388Asp | |
| ENST00000340941.10:c.1163T>A | ENSP00000343657.6:p.Val388Asp | |
| ENST00000509539.2:c.479T>A | ENSP00000425474.2:p.Val160Asp | |
| ENST00000512218.6:c.*115T>A | ENSP00000423202.2:n.*115T>A | |
| NM_022132.4:c.1163T>A | NP_071415.1:p.Val388Asp | |
| XM_005248567.1:c.1049T>A | XP_005248624.1:p.Val350Asp | |
| NM_001363147.1:c.1049T>A | NP_001350076.1:p.Val350Asp | |
| XR_001742172.1:n.1251T>A | ||
| NM_022132.5:c.1163T>A MANE Select | NP_071415.1:p.Val388Asp |