Revel Score:
ENST00000400227
0.677
ENST00000349736
0.677
ENST00000217244 (MANE Select)
0.677
ENST00000381973
0.677
ENST00000400217
0.677
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.492286A>T , CM000682.2:g.492286A>T | GRCh38 |
| NC_000020.10:g.472930A>T , CM000682.1:g.472930A>T | GRCh37 |
| NC_000020.9:g.420930A>T | NCBI36 |
| NG_011970.1:g.56553T>A | |
| NG_011970.2:g.56553T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217244.9:c.589T>A MANE Select | ENSP00000217244.3:p.Phe197Ile | |
| ENST00000349736.10:c.181T>A | ENSP00000339247.6:p.Phe61Ile | |
| ENST00000400217.7:c.589T>A | ENSP00000383076.2:p.Phe197Ile | |
| ENST00000400227.8:c.589T>A | ENSP00000383086.3:p.Phe197Ile | |
| ENST00000642689.1:c.538T>A | ENSP00000495414.1:p.Phe180Ile | |
| ENST00000643600.1:c.589T>A | ENSP00000494038.1:p.Phe197Ile | |
| ENST00000643641.1:n.639T>A | ||
| ENST00000643660.1:c.589T>A | ENSP00000495248.1:p.Phe197Ile | |
| ENST00000643680.1:c.589T>A | ENSP00000493704.1:p.Phe197Ile | |
| ENST00000643700.1:n.1266T>A | ||
| ENST00000643980.1:n.1482T>A | ||
| ENST00000644003.1:c.181T>A | ENSP00000495387.1:p.Phe61Ile | |
| ENST00000644170.1:n.756T>A | ||
| ENST00000644448.1:n.1089T>A | ||
| ENST00000644710.1:c.538T>A | ENSP00000493791.1:p.Phe180Ile | |
| ENST00000644885.1:c.505T>A | ENSP00000496146.1:p.Phe169Ile | |
| ENST00000645234.1:c.589T>A | ENSP00000494288.1:p.Phe197Ile | |
| ENST00000645249.1:c.*662T>A | ENSP00000496152.1:n.*662T>A | |
| ENST00000645260.1:c.478T>A | ENSP00000493931.1:p.Phe160Ile | |
| ENST00000645334.1:n.432T>A | ||
| ENST00000645623.1:c.589T>A | ENSP00000495998.1:p.Phe197Ile | |
| ENST00000645768.1:n.1216T>A | ||
| ENST00000645840.1:c.*407T>A | ENSP00000494445.1:n.*407T>A | |
| ENST00000645910.1:c.*341T>A | ENSP00000493697.1:n.*341T>A | |
| ENST00000646305.1:c.589T>A | ENSP00000495902.1:p.Phe197Ile | |
| ENST00000646477.1:c.181T>A | ENSP00000495439.1:p.Phe61Ile | |
| ENST00000646561.1:c.589T>A | ENSP00000496569.1:p.Phe197Ile | |
| ENST00000646814.1:c.589T>A | ENSP00000495422.1:p.Phe197Ile | |
| ENST00000647026.1:c.511-2405T>A | ENSP00000494370.1:n.511-2405T>A | |
| ENST00000647155.1:n.754T>A | ||
| ENST00000647348.1:c.589T>A | ENSP00000495912.1:p.Phe197Ile | |
| ENST00000217244.7:c.589T>A | ENSP00000217244.3:p.Phe197Ile | |
| ENST00000349736.9:c.589T>A | ENSP00000339247.5:p.Phe197Ile | |
| ENST00000400217.6:c.181T>A | ENSP00000383076.1:p.Phe61Ile | |
| ENST00000400227.7:c.589T>A | ENSP00000383086.3:p.Phe197Ile | |
| ENST00000619188.4:c.589T>A | ENSP00000479630.1:p.Phe197Ile | |
| NM_001895.3:c.589T>A | NP_001886.1:p.Phe197Ile | |
| NM_177559.2:c.589T>A | NP_808227.1:p.Phe197Ile | |
| NM_177560.2:c.181T>A | NP_808228.1:p.Phe61Ile | |
| XM_011529175.1:c.589T>A | XP_011527477.1:p.Phe197Ile | |
| XM_011529176.1:c.181T>A | XP_011527478.1:p.Phe61Ile | |
| NM_001362770.1:c.589T>A | NP_001349699.1:p.Phe197Ile | |
| NM_001362771.1:c.589T>A | NP_001349700.1:p.Phe197Ile | |
| NM_177559.3:c.589T>A MANE Select | NP_808227.1:p.Phe197Ile | |
| NM_001362770.2:c.589T>A | NP_001349699.1:p.Phe197Ile | |
| NM_001362771.2:c.589T>A | NP_001349700.1:p.Phe197Ile | |
| NM_001895.4:c.589T>A | NP_001886.1:p.Phe197Ile | |
| NM_177560.3:c.181T>A | NP_808228.1:p.Phe61Ile |