Revel Score:
ENST00000330634
0.203
ENST00000392634 (MANE Select)
0.203
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00071868 (SAS)
Genomes Max Group AF
0.00082357 (SAS)
Exomes Max Group AF
0.00067388 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714794G>T , CM000676.2:g.104714794G>T | GRCh38 |
| NC_000014.8:g.105181131G>T , CM000676.1:g.105181131G>T | GRCh37 |
| NC_000014.7:g.104252176G>T | NCBI36 |
| NG_027684.1:g.30189G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3632G>T MANE Select | ENSP00000376410.4:p.Arg1211Leu | |
| ENST00000617571.5:c.3628G>T | ENSP00000483829.2:n.3628G>T | |
| ENST00000674520.1:c.3627G>T | ENSP00000502593.1:n.3627G>T | |
| ENST00000674631.1:c.1670G>T | ENSP00000502830.1:p.Arg557Leu | |
| ENST00000674662.1:c.3636G>T | ENSP00000501895.1:n.3636G>T | |
| ENST00000674757.1:c.3637G>T | ENSP00000502202.1:n.3637G>T | |
| ENST00000674822.1:c.3516G>T | ENSP00000501552.1:n.3516G>T | |
| ENST00000674846.1:c.3627G>T | ENSP00000502431.1:n.3627G>T | |
| ENST00000674857.1:c.3621G>T | ENSP00000501687.1:n.3621G>T | |
| ENST00000674960.1:c.3490G>T | ENSP00000501841.1:n.3490G>T | |
| ENST00000674991.1:c.2882G>T | ENSP00000502004.1:p.Arg961Leu | |
| ENST00000675207.1:c.3728G>T | ENSP00000502644.1:p.Arg1243Leu | |
| ENST00000675329.1:c.3608G>T | ENSP00000502287.1:p.Arg1203Leu | |
| ENST00000675481.1:c.3632G>T | ENSP00000502723.1:p.Arg1211Leu | |
| ENST00000675583.1:c.3561G>T | ENSP00000501740.1:n.3561G>T | |
| ENST00000675603.1:n.872G>T | ||
| ENST00000675638.1:c.3551G>T | ENSP00000501647.1:p.Arg1184Leu | |
| ENST00000675724.1:c.3570G>T | ENSP00000502576.1:n.3570G>T | |
| ENST00000675771.1:c.2895G>T | ENSP00000502104.1:n.2895G>T | |
| ENST00000675797.1:c.3037G>T | ENSP00000502023.1:n.3037G>T | |
| ENST00000675809.1:c.3687G>T | ENSP00000502587.1:n.3687G>T | |
| ENST00000675930.1:c.3520G>T | ENSP00000502456.1:n.3520G>T | |
| ENST00000675980.1:c.3650G>T | ENSP00000502520.1:p.Arg1217Leu | |
| ENST00000676016.1:c.3531G>T | ENSP00000502412.1:n.3531G>T | |
| ENST00000676366.1:c.3439G>T | ENSP00000501605.1:n.3439G>T | |
| ENST00000252527.8:c.2036G>T | ENSP00000252527.8:p.Arg679Leu | |
| ENST00000330634.11:c.3632G>T | ENSP00000376406.3:p.Arg1211Leu | |
| ENST00000392634.8:c.3632G>T | ENSP00000376410.4:p.Arg1211Leu | |
| ENST00000617571.4:c.-502G>T | ENSP00000483829.1:n.-502G>T | |
| NM_001031714.3:c.3632G>T | NP_001026884.3:p.Arg1211Leu | |
| NM_022489.3:c.3632G>T | NP_071934.3:p.Arg1211Leu | |
| XM_005268004.3:c.3728G>T | XP_005268061.1:p.Arg1243Leu | |
| XM_005268005.3:c.3728G>T | XP_005268062.1:p.Arg1243Leu | |
| XR_943507.1:n.3857G>T | ||
| XM_005268004.4:c.3728G>T | XP_005268061.1:p.Arg1243Leu | |
| XM_005268005.4:c.3728G>T | XP_005268062.1:p.Arg1243Leu | |
| XM_017021595.1:c.3728G>T | XP_016877084.1:p.Arg1243Leu | |
| NM_001031714.4:c.3632G>T | NP_001026884.3:p.Arg1211Leu | |
| NM_022489.4:c.3632G>T MANE Select | NP_071934.3:p.Arg1211Leu |