Revel Score:
ENST00000367376
0.262
ENST00000367366
0.262
ENST00000352140
0.262
ENST00000535566
0.262
ENST00000530727
0.262
ENST00000442510 (MANE Select)
0.262
ENST00000367367
0.262
ENST00000348564
0.262
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.198718267A>G , CM000663.2:g.198718267A>G | GRCh38 |
| NC_000001.10:g.198687396A>G , CM000663.1:g.198687396A>G | GRCh37 |
| NC_000001.9:g.196954019A>G | NCBI36 |
| NG_007730.1:g.84172A>G | |
| NG_007730.2:g.84173A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491302.2:n.677A>G | ||
| ENST00000697630.1:n.5454A>G | ||
| ENST00000697631.1:c.1339A>G | ENSP00000513363.1:p.Lys447Glu | |
| ENST00000697632.1:c.586A>G | ENSP00000513364.1:p.Lys196Glu | |
| ENST00000697633.1:c.99A>G | ||
| ENST00000348564.11:c.1141A>G | ENSP00000306782.7:p.Lys381Glu | |
| ENST00000442510.8:c.1624A>G MANE Select | ENSP00000411355.3:p.Lys542Glu | |
| ENST00000348564.10:c.1141A>G | ENSP00000306782.7:p.Lys381Glu | |
| ENST00000367367.8:c.1426A>G | ENSP00000356337.5:p.Lys476Glu | |
| ENST00000442510.6:c.1624A>G | ENSP00000411355.3:p.Lys542Glu | |
| ENST00000491302.1:n.616A>G | ||
| ENST00000529828.5:c.1480A>G | ENSP00000469141.1:p.Lys494Glu | |
| ENST00000530727.5:c.1282A>G | ENSP00000433536.2:p.Lys428Glu | |
| NM_002838.4:c.1624A>G | NP_002829.3:p.Lys542Glu | |
| NM_080921.3:c.1141A>G | NP_563578.2:p.Lys381Glu | |
| XM_006711472.2:c.1480A>G | XP_006711535.1:p.Lys494Glu | |
| XM_006711473.2:c.1426A>G | XP_006711536.1:p.Lys476Glu | |
| XM_006711474.2:c.1282A>G | XP_006711537.1:p.Lys428Glu | |
| XM_006711472.4:c.1480A>G | XP_006711535.1:p.Lys494Glu | |
| XM_006711473.3:c.1426A>G | XP_006711536.1:p.Lys476Glu | |
| XM_006711474.3:c.1282A>G | XP_006711537.1:p.Lys428Glu | |
| NM_002838.5:c.1624A>G MANE Select | NP_002829.3:p.Lys542Glu | |
| NM_080921.4:c.1141A>G | NP_563578.2:p.Lys381Glu |