Revel Score:
ENST00000369702 (MANE Select)
0.081
ENST00000475700
0.081
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022311 (EAS)
Genomes Max Group AF
0.00006832 (EAS)
Exomes Max Group AF
0.00021265 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111766501C>G , CM000663.2:g.111766501C>G | GRCh38 |
| NC_000001.10:g.112309123C>G , CM000663.1:g.112309123C>G | GRCh37 |
| NC_000001.9:g.112110646C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369702.5:c.2077C>G MANE Select | ENSP00000358716.4:p.Arg693Gly | |
| ENST00000533164.6:c.*1491C>G | ENSP00000434085.1:n.*1491C>G | |
| ENST00000534200.2:n.3812C>G | ||
| ENST00000679381.1:n.2699C>G | ||
| ENST00000679498.1:n.3935C>G | ||
| ENST00000679576.1:c.2412C>G | ENSP00000506357.1:n.2412C>G | |
| ENST00000679724.1:c.2077C>G | ENSP00000505857.1:p.Arg693Gly | |
| ENST00000679774.1:n.3702C>G | ||
| ENST00000680038.1:n.3069C>G | ||
| ENST00000680317.1:n.2425C>G | ||
| ENST00000680383.1:c.*956C>G | ENSP00000505119.1:n.*956C>G | |
| ENST00000680415.1:n.3408C>G | ||
| ENST00000680518.1:c.*803C>G | ENSP00000506543.1:n.*803C>G | |
| ENST00000680627.1:c.2077C>G | ENSP00000505758.1:p.Arg693Gly | |
| ENST00000680936.1:c.*1305C>G | ENSP00000506651.1:n.*1305C>G | |
| ENST00000680983.1:n.1946C>G | ||
| ENST00000681529.1:n.2799C>G | ||
| ENST00000681559.1:c.*1254C>G | ENSP00000506100.1:n.*1254C>G | |
| ENST00000681747.1:n.3077C>G | ||
| ENST00000369702.4:c.2077C>G | ENSP00000358716.4:p.Arg693Gly | |
| ENST00000475700.1:c.901C>G | ENSP00000435660.1:p.Arg301Gly | |
| NM_007204.4:c.2077C>G | NP_009135.4:p.Arg693Gly | |
| NM_007204.5:c.2077C>G MANE Select | NP_009135.4:p.Arg693Gly |