Revel Score:
ENST00000340941 (MANE Select)
0.872
ENST00000323375
0.872
ENST00000509539
0.872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646212G>A , CM000667.2:g.71646212G>A | GRCh38 |
| NC_000005.9:g.70942039G>A , CM000667.1:g.70942039G>A | GRCh37 |
| NC_000005.8:g.70977795G>A | NCBI36 |
| NG_008882.1:g.63925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2759G>A | ||
| ENST00000505787.8:n.2982G>A | ||
| ENST00000509539.3:c.477G>A | ENSP00000425474.3:n.477G>A | |
| ENST00000681968.1:c.644G>A | ENSP00000508143.1:p.Gly215Asp | |
| ENST00000681991.1:n.1235G>A | ||
| ENST00000682045.1:c.1007G>A | ENSP00000507329.1:p.Gly336Asp | |
| ENST00000682214.1:c.758G>A | ENSP00000507336.1:p.Gly253Asp | |
| ENST00000682231.1:n.169G>A | ||
| ENST00000682438.1:n.3150G>A | ||
| ENST00000682499.1:n.1972G>A | ||
| ENST00000682541.1:c.*49G>A | ENSP00000507673.1:n.*49G>A | |
| ENST00000682640.1:n.855G>A | ||
| ENST00000682667.1:n.1316G>A | ||
| ENST00000682687.1:c.*103G>A | ENSP00000507945.1:n.*103G>A | |
| ENST00000682727.1:c.1142G>A | ENSP00000507393.1:p.Gly381Asp | |
| ENST00000682876.1:c.1280G>A | ENSP00000508389.1:p.Gly427Asp | |
| ENST00000683098.1:c.805G>A | ENSP00000507670.1:p.Val269Ile | |
| ENST00000683258.1:c.*872G>A | ENSP00000507448.1:n.*872G>A | |
| ENST00000683339.1:c.935G>A | ENSP00000507758.1:p.Gly312Asp | |
| ENST00000683403.1:c.1061G>A | ENSP00000507896.1:p.Gly354Asp | |
| ENST00000683429.1:c.758G>A | ENSP00000507697.1:p.Gly253Asp | |
| ENST00000683789.1:c.1037G>A | ENSP00000507012.1:p.Gly346Asp | |
| ENST00000683847.1:n.1321G>A | ||
| ENST00000683882.1:c.*92G>A | ENSP00000506735.1:n.*92G>A | |
| ENST00000684024.1:c.*822G>A | ENSP00000507175.1:n.*822G>A | |
| ENST00000684132.1:c.79G>A | ||
| ENST00000684254.1:c.*877G>A | ENSP00000508001.1:n.*877G>A | |
| ENST00000684310.1:c.317G>A | ENSP00000507550.1:p.Gly106Asp | |
| ENST00000684474.1:n.787G>A | ||
| ENST00000684530.1:c.335-2885G>A | ENSP00000507439.1:n.335-2885G>A | |
| ENST00000684686.1:n.770G>A | ||
| ENST00000340941.11:c.1151G>A MANE Select | ENSP00000343657.6:p.Gly384Asp | |
| ENST00000340941.10:c.1151G>A | ENSP00000343657.6:p.Gly384Asp | |
| ENST00000509539.2:c.467G>A | ENSP00000425474.2:p.Gly156Asp | |
| ENST00000512218.6:c.*103G>A | ENSP00000423202.2:n.*103G>A | |
| NM_022132.4:c.1151G>A | NP_071415.1:p.Gly384Asp | |
| XM_005248567.1:c.1037G>A | XP_005248624.1:p.Gly346Asp | |
| NM_001363147.1:c.1037G>A | NP_001350076.1:p.Gly346Asp | |
| XR_001742172.1:n.1239G>A | ||
| NM_022132.5:c.1151G>A MANE Select | NP_071415.1:p.Gly384Asp |