Revel Score:
ENST00000357179 (MANE Select)
0.111
ENST00000398793
0.111
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21957413C>T , CM000684.2:g.21957413C>T | GRCh38 |
| NC_000022.10:g.22311785C>T , CM000684.1:g.22311785C>T | GRCh37 |
| NC_000022.9:g.20641785C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357179.10:c.2290G>A MANE Select | ENSP00000349705.5:p.Val764Met | |
| ENST00000357179.9:c.2290G>A | ENSP00000349705.5:p.Val764Met | |
| ENST00000398793.6:c.2290G>A | ENSP00000381773.2:p.Val764Met | |
| ENST00000436282.1:c.2509G>A | ENSP00000416451.1:n.2509G>A | |
| ENST00000444502.5:c.*3232G>A | ENSP00000392480.1:n.*3232G>A | |
| ENST00000457179.5:c.*2126G>A | ENSP00000397221.1:n.*2126G>A | |
| ENST00000457270.5:c.2570G>A | ||
| NM_001282112.1:c.2290G>A | NP_001269041.1:p.Val764Met | |
| NM_001282113.1:c.2290G>A | NP_001269042.1:p.Val764Met | |
| NM_003935.4:c.2290G>A | NP_003926.1:p.Val764Met | |
| XM_005261811.1:c.2290G>A | XP_005261868.1:p.Val764Met | |
| XM_005261813.1:c.1882G>A | XP_005261870.1:p.Val628Met | |
| XM_006724349.1:c.2290G>A | XP_006724412.1:p.Val764Met | |
| XM_006724350.1:c.2290G>A | XP_006724413.1:p.Val764Met | |
| XM_011530482.1:c.2290G>A | XP_011528784.1:p.Val764Met | |
| XM_011530483.1:c.2290G>A | XP_011528785.1:p.Val764Met | |
| XR_937945.1:n.3313G>A | ||
| NM_001349845.1:c.2290G>A | NP_001336774.1:p.Val764Met | |
| NM_001349847.1:c.2290G>A | NP_001336776.1:p.Val764Met | |
| NM_001349848.1:c.1882G>A | NP_001336777.1:p.Val628Met | |
| NM_001349850.1:c.1882G>A | NP_001336779.1:p.Val628Met | |
| NM_001349851.1:c.*993G>A | NP_001336780.1:n.*993G>A | |
| NM_001349852.1:c.*993G>A | NP_001336781.1:n.*993G>A | |
| NR_146277.1:n.3416G>A | ||
| XM_017029038.2:c.2108-1075G>A | XP_016884527.1:n.2108-1075G>A | |
| XM_024452297.1:c.2290G>A | XP_024308065.1:p.Val764Met | |
| XR_001755353.2:n.2290-1075G>A | ||
| XR_001755355.2:n.2773G>A | ||
| XR_001755357.2:n.2461G>A | ||
| XR_001755359.1:n.3438G>A | ||
| NM_001282112.2:c.2290G>A MANE Select | NP_001269041.1:p.Val764Met | |
| NM_001282113.2:c.2290G>A | NP_001269042.1:p.Val764Met | |
| NM_001349845.2:c.2290G>A | NP_001336774.1:p.Val764Met | |
| NM_001349847.2:c.2290G>A | NP_001336776.1:p.Val764Met | |
| NM_001349848.2:c.1882G>A | NP_001336777.1:p.Val628Met | |
| NM_001349850.2:c.1882G>A | NP_001336779.1:p.Val628Met | |
| NM_001349851.2:c.*993G>A | NP_001336780.1:n.*993G>A | |
| NM_001349852.2:c.*993G>A | NP_001336781.1:n.*993G>A | |
| NM_003935.5:c.2290G>A | NP_003926.1:p.Val764Met | |
| NR_146277.2:n.3360G>A |