Revel Score:
ENST00000340941 (MANE Select)
0.954
ENST00000323375
0.954
ENST00000509539
0.954
gnomAD v4:
Joint Max Group AF
0.00000442 (AFR)
Exomes Max Group AF
0.0000099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646221T>G , CM000667.2:g.71646221T>G | GRCh38 |
| NC_000005.9:g.70942048T>G , CM000667.1:g.70942048T>G | GRCh37 |
| NC_000005.8:g.70977804T>G | NCBI36 |
| NG_008882.1:g.63934T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2768T>G | ||
| ENST00000505787.8:n.2991T>G | ||
| ENST00000509539.3:c.486T>G | ENSP00000425474.3:n.486T>G | |
| ENST00000681968.1:c.653T>G | ENSP00000508143.1:p.Phe218Cys | |
| ENST00000681991.1:n.1244T>G | ||
| ENST00000682045.1:c.1016T>G | ENSP00000507329.1:p.Phe339Cys | |
| ENST00000682214.1:c.767T>G | ENSP00000507336.1:p.Phe256Cys | |
| ENST00000682231.1:n.178T>G | ||
| ENST00000682438.1:n.3159T>G | ||
| ENST00000682499.1:n.1981T>G | ||
| ENST00000682541.1:c.*58T>G | ENSP00000507673.1:n.*58T>G | |
| ENST00000682640.1:n.864T>G | ||
| ENST00000682667.1:n.1325T>G | ||
| ENST00000682687.1:c.*112T>G | ENSP00000507945.1:n.*112T>G | |
| ENST00000682727.1:c.1151T>G | ENSP00000507393.1:p.Phe384Cys | |
| ENST00000682876.1:c.1289T>G | ENSP00000508389.1:p.Phe430Cys | |
| ENST00000683098.1:c.814T>G | ENSP00000507670.1:p.Leu272Val | |
| ENST00000683258.1:c.*881T>G | ENSP00000507448.1:n.*881T>G | |
| ENST00000683339.1:c.944T>G | ENSP00000507758.1:p.Phe315Cys | |
| ENST00000683403.1:c.1070T>G | ENSP00000507896.1:p.Phe357Cys | |
| ENST00000683429.1:c.767T>G | ENSP00000507697.1:p.Phe256Cys | |
| ENST00000683789.1:c.1046T>G | ENSP00000507012.1:p.Phe349Cys | |
| ENST00000683847.1:n.1330T>G | ||
| ENST00000683882.1:c.*101T>G | ENSP00000506735.1:n.*101T>G | |
| ENST00000684024.1:c.*831T>G | ENSP00000507175.1:n.*831T>G | |
| ENST00000684132.1:c.88T>G | ||
| ENST00000684254.1:c.*886T>G | ENSP00000508001.1:n.*886T>G | |
| ENST00000684310.1:c.326T>G | ENSP00000507550.1:p.Phe109Cys | |
| ENST00000684474.1:n.796T>G | ||
| ENST00000684530.1:c.335-2876T>G | ENSP00000507439.1:n.335-2876T>G | |
| ENST00000684686.1:n.779T>G | ||
| ENST00000340941.11:c.1160T>G MANE Select | ENSP00000343657.6:p.Phe387Cys | |
| ENST00000340941.10:c.1160T>G | ENSP00000343657.6:p.Phe387Cys | |
| ENST00000509539.2:c.476T>G | ENSP00000425474.2:p.Phe159Cys | |
| ENST00000512218.6:c.*112T>G | ENSP00000423202.2:n.*112T>G | |
| NM_022132.4:c.1160T>G | NP_071415.1:p.Phe387Cys | |
| XM_005248567.1:c.1046T>G | XP_005248624.1:p.Phe349Cys | |
| NM_001363147.1:c.1046T>G | NP_001350076.1:p.Phe349Cys | |
| XR_001742172.1:n.1248T>G | ||
| NM_022132.5:c.1160T>G MANE Select | NP_071415.1:p.Phe387Cys |