Revel Score:
ENST00000340941 (MANE Select)
0.908
ENST00000323375
0.908
ENST00000509539
0.908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646224T>G , CM000667.2:g.71646224T>G | GRCh38 |
| NC_000005.9:g.70942051T>G , CM000667.1:g.70942051T>G | GRCh37 |
| NC_000005.8:g.70977807T>G | NCBI36 |
| NG_008882.1:g.63937T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2771T>G | ||
| ENST00000505787.8:n.2994T>G | ||
| ENST00000509539.3:c.489T>G | ENSP00000425474.3:n.489T>G | |
| ENST00000681968.1:c.656T>G | ENSP00000508143.1:p.Val219Gly | |
| ENST00000681991.1:n.1247T>G | ||
| ENST00000682045.1:c.1019T>G | ENSP00000507329.1:p.Val340Gly | |
| ENST00000682214.1:c.770T>G | ENSP00000507336.1:p.Val257Gly | |
| ENST00000682231.1:n.181T>G | ||
| ENST00000682438.1:n.3162T>G | ||
| ENST00000682499.1:n.1984T>G | ||
| ENST00000682541.1:c.*61T>G | ENSP00000507673.1:n.*61T>G | |
| ENST00000682640.1:n.867T>G | ||
| ENST00000682667.1:n.1328T>G | ||
| ENST00000682687.1:c.*115T>G | ENSP00000507945.1:n.*115T>G | |
| ENST00000682727.1:c.1154T>G | ENSP00000507393.1:p.Val385Gly | |
| ENST00000682876.1:c.1292T>G | ENSP00000508389.1:p.Val431Gly | |
| ENST00000683098.1:c.817T>G | ENSP00000507670.1:p.Ser273Ala | |
| ENST00000683258.1:c.*884T>G | ENSP00000507448.1:n.*884T>G | |
| ENST00000683339.1:c.947T>G | ENSP00000507758.1:p.Val316Gly | |
| ENST00000683403.1:c.1073T>G | ENSP00000507896.1:p.Val358Gly | |
| ENST00000683429.1:c.770T>G | ENSP00000507697.1:p.Val257Gly | |
| ENST00000683789.1:c.1049T>G | ENSP00000507012.1:p.Val350Gly | |
| ENST00000683847.1:n.1333T>G | ||
| ENST00000683882.1:c.*104T>G | ENSP00000506735.1:n.*104T>G | |
| ENST00000684024.1:c.*834T>G | ENSP00000507175.1:n.*834T>G | |
| ENST00000684132.1:c.91T>G | ||
| ENST00000684254.1:c.*889T>G | ENSP00000508001.1:n.*889T>G | |
| ENST00000684310.1:c.329T>G | ENSP00000507550.1:p.Val110Gly | |
| ENST00000684316.1:n.1T>G | ||
| ENST00000684474.1:n.799T>G | ||
| ENST00000684530.1:c.335-2873T>G | ENSP00000507439.1:n.335-2873T>G | |
| ENST00000684686.1:n.782T>G | ||
| ENST00000340941.11:c.1163T>G MANE Select | ENSP00000343657.6:p.Val388Gly | |
| ENST00000340941.10:c.1163T>G | ENSP00000343657.6:p.Val388Gly | |
| ENST00000509539.2:c.479T>G | ENSP00000425474.2:p.Val160Gly | |
| ENST00000512218.6:c.*115T>G | ENSP00000423202.2:n.*115T>G | |
| NM_022132.4:c.1163T>G | NP_071415.1:p.Val388Gly | |
| XM_005248567.1:c.1049T>G | XP_005248624.1:p.Val350Gly | |
| NM_001363147.1:c.1049T>G | NP_001350076.1:p.Val350Gly | |
| XR_001742172.1:n.1251T>G | ||
| NM_022132.5:c.1163T>G MANE Select | NP_071415.1:p.Val388Gly |