Revel Score:
ENST00000418776
0.244
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186582011C>A , CM000665.2:g.186582011C>A | GRCh38 |
| NC_000003.11:g.186299800C>A , CM000665.1:g.186299800C>A | GRCh37 |
| NC_000003.10:g.187782494C>A | NCBI36 |
| NG_034024.1:g.16336C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265028.8:c.616C>A MANE Select | ENSP00000265028.3:p.Arg206= | |
| ENST00000464877.2:n.4865C>A | ||
| ENST00000495390.2:n.4384C>A | ||
| ENST00000679794.1:n.824C>A | ||
| ENST00000680338.1:c.*347C>A | ENSP00000505624.1:n.*347C>A | |
| ENST00000681475.1:n.228C>A | ||
| ENST00000681543.1:n.1840C>A | ||
| ENST00000265028.7:c.616C>A | ENSP00000265028.3:p.Arg206= | |
| ENST00000418776.1:c.17C>A | ||
| ENST00000439351.5:c.616C>A | ENSP00000414398.1:p.Arg206= | |
| ENST00000495390.1:n.3233C>A | ||
| NM_016306.5:c.616C>A | NP_057390.1:p.Arg206= | |
| NM_001378451.1:c.340C>A | NP_001365380.1:p.Arg114= | |
| NM_016306.6:c.616C>A MANE Select | NP_057390.1:p.Arg206= | |
| NR_165638.1:n.790C>A | ||
| NR_165639.1:n.794C>A | ||
| NR_165640.1:n.877C>A | ||
| NR_165641.1:n.762C>A | ||
| NR_165642.1:n.651C>A | ||
| NR_165643.1:n.744C>A |