Revel Score:
ENST00000401500 (MANE Select)
0.297
ENST00000270301
0.297
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002549 (AFR)
Genomes Max Group AF
0.00001919 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36097074C>T , CM000681.2:g.36097074C>T | GRCh38 |
| NC_000019.9:g.36587976C>T , CM000681.1:g.36587976C>T | GRCh37 |
| NC_000019.8:g.41279816C>T | NCBI36 |
| NG_028101.1:g.47194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.2515C>T | ENSP00000270301.6:p.Arg839Trp | |
| ENST00000401500.7:c.2515C>T MANE Select | ENSP00000384792.1:p.Arg839Trp | |
| ENST00000587391.6:c.*1205C>T | ENSP00000465525.1:n.*1205C>T | |
| ENST00000679357.1:c.305C>T | ||
| ENST00000679422.1:c.305C>T | ||
| ENST00000679682.1:c.2500C>T | ENSP00000506226.1:p.Arg834Trp | |
| ENST00000679714.1:c.2509C>T | ENSP00000506627.1:p.Arg837Trp | |
| ENST00000679757.1:c.2164C>T | ENSP00000505158.1:p.Arg722Trp | |
| ENST00000679858.1:c.*1312C>T | ENSP00000505655.1:n.*1312C>T | |
| ENST00000680349.1:n.498C>T | ||
| ENST00000680377.1:c.789C>T | ||
| ENST00000680403.1:c.2515C>T | ENSP00000505677.1:p.Arg839Trp | |
| ENST00000680564.1:c.2515C>T | ENSP00000505582.1:p.Arg839Trp | |
| ENST00000680590.1:c.*914C>T | ENSP00000505350.1:n.*914C>T | |
| ENST00000680806.1:c.*1344C>T | ENSP00000506418.1:n.*1344C>T | |
| ENST00000680858.1:c.713C>T | ||
| ENST00000681088.1:c.305C>T | ||
| ENST00000681302.1:c.901C>T | ||
| ENST00000681625.1:c.2500C>T | ENSP00000505555.1:p.Arg834Trp | |
| ENST00000270301.11:c.2515C>T | ENSP00000270301.6:p.Arg839Trp | |
| ENST00000401500.6:c.2515C>T | ENSP00000384792.1:p.Arg839Trp | |
| ENST00000587391.5:c.*1205C>T | ENSP00000465525.1:n.*1205C>T | |
| NM_001083961.1:c.2515C>T | NP_001077430.1:p.Arg839Trp | |
| NM_173636.4:c.2515C>T | NP_775907.4:p.Arg839Trp | |
| XM_005258809.2:c.2515C>T | XP_005258866.1:p.Arg839Trp | |
| XM_011526837.1:c.2500C>T | XP_011525139.1:p.Arg834Trp | |
| XM_011526838.1:c.2515C>T | XP_011525140.1:p.Arg839Trp | |
| XM_011526839.1:c.2164C>T | XP_011525141.1:p.Arg722Trp | |
| XM_011526840.1:c.1507C>T | XP_011525142.1:p.Arg503Trp | |
| XM_011526841.1:c.1093C>T | XP_011525143.1:p.Arg365Trp | |
| XM_011526842.1:c.946C>T | XP_011525144.1:p.Arg316Trp | |
| XM_011526843.1:c.262C>T | XP_011525145.1:p.Arg88Trp | |
| XM_011526844.1:c.262C>T | XP_011525146.1:p.Arg88Trp | |
| XM_011526840.2:c.1507C>T | XP_011525142.1:p.Arg503Trp | |
| XM_011526841.2:c.1093C>T | XP_011525143.1:p.Arg365Trp | |
| XM_011526844.2:c.262C>T | XP_011525146.1:p.Arg88Trp | |
| XM_017026665.1:c.2515C>T | XP_016882154.1:p.Arg839Trp | |
| NM_001083961.2:c.2515C>T MANE Select | NP_001077430.1:p.Arg839Trp | |
| NM_173636.5:c.2515C>T | NP_775907.4:p.Arg839Trp |