Revel Score:
ENST00000357654 (MANE Select)
0.530
ENST00000412061
0.530
ENST00000354071
0.530
ENST00000352993
0.530
ENST00000346315
0.530
ENST00000351666
0.530
ENST00000309486
0.530
ENST00000468300
0.530
ENST00000393691
0.530
ENST00000471181
0.530
ENST00000493795
0.530
ENST00000491747
0.530
ENST00000478531
0.530
ENST00000484087
0.530
ENST00000493919
0.530
ENST00000487825
0.530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43090958T>C , CM000679.2:g.43090958T>C | GRCh38 |
| NC_000017.10:g.41242975T>C , CM000679.1:g.41242975T>C | GRCh37 |
| NC_000017.9:g.38496501T>C | NCBI36 |
| NG_005905.2:g.127026A>G , LRG_292:g.127026A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4171A>G | ENSP00000417241.2:p.Ile1391Val | |
| ENST00000470026.6:c.4171A>G | ENSP00000419274.2:p.Ile1391Val | |
| ENST00000473961.6:c.4045A>G | ENSP00000420201.2:p.Ile1349Val | |
| ENST00000476777.6:c.4168A>G | ENSP00000417554.2:p.Ile1390Val | |
| ENST00000477152.6:c.4093A>G | ENSP00000419988.2:p.Ile1365Val | |
| ENST00000478531.6:c.859A>G | ENSP00000420412.2:p.Ile287Val | |
| ENST00000489037.2:c.4093A>G | ENSP00000420781.2:p.Ile1365Val | |
| ENST00000493919.6:c.721A>G | ENSP00000418819.2:p.Ile241Val | |
| ENST00000494123.6:c.4171A>G | ENSP00000419103.2:p.Ile1391Val | |
| ENST00000497488.2:c.3283A>G | ENSP00000418986.2:p.Ile1095Val | |
| ENST00000618469.2:c.4171A>G | ENSP00000478114.2:p.Ile1391Val | |
| ENST00000634433.2:c.4048A>G | ENSP00000489431.2:p.Ile1350Val | |
| ENST00000644379.2:c.4171A>G | ENSP00000496570.2:p.Ile1391Val | |
| ENST00000644555.2:c.721A>G | ENSP00000494614.2:p.Ile241Val | |
| ENST00000652672.2:c.4030A>G | ENSP00000498906.2:p.Ile1344Val | |
| ENST00000484087.6:c.739A>G | ENSP00000419481.2:p.Ile247Val | |
| ENST00000700182.1:c.781A>G | ENSP00000514849.1:p.Ile261Val | |
| ENST00000357654.9:c.4171A>G MANE Select | ENSP00000350283.3:p.Ile1391Val | |
| ENST00000471181.7:c.4171A>G | ENSP00000418960.2:p.Ile1391Val | |
| ENST00000644379.1:c.492A>G | ||
| ENST00000352993.7:c.745A>G | ENSP00000312236.5:p.Ile249Val | |
| ENST00000357654.7:c.4171A>G | ENSP00000350283.3:p.Ile1391Val | |
| ENST00000461221.5:c.*3954A>G | ENSP00000418548.1:n.*3954A>G | |
| ENST00000461574.1:c.465A>G | ||
| ENST00000468300.5:c.862A>G | ENSP00000417148.1:p.Ile288Val | |
| ENST00000471181.6:c.4171A>G | ENSP00000418960.2:p.Ile1391Val | |
| ENST00000478531.5:c.859A>G | ENSP00000420412.1:p.Ile287Val | |
| ENST00000484087.5:c.484A>G | ENSP00000419481.1:p.Ile162Val | |
| ENST00000487825.5:c.487A>G | ENSP00000418212.1:p.Ile163Val | |
| ENST00000491747.6:c.862A>G | ENSP00000420705.2:p.Ile288Val | |
| ENST00000493795.5:c.4030A>G | ENSP00000418775.1:p.Ile1344Val | |
| ENST00000493919.5:c.721A>G | ENSP00000418819.1:p.Ile241Val | |
| ENST00000586385.5:c.5-27007A>G | ENSP00000465818.1:n.5-27007A>G | |
| ENST00000591534.5:c.-43-16437A>G | ENSP00000467329.1:n.-43-16437A>G | |
| ENST00000591849.5:c.-99+34313A>G | ENSP00000465347.1:n.-99+34313A>G | |
| NM_007294.3:c.4171A>G , LRG_292t1:c.4171A>G | NP_009225.1:p.Ile1391Val | |
| NM_007297.3:c.4030A>G | NP_009228.2:p.Ile1344Val | |
| NM_007298.3:c.862A>G | NP_009229.2:p.Ile288Val | |
| NM_007299.3:c.862A>G | NP_009230.2:p.Ile288Val | |
| NM_007300.3:c.4171A>G | NP_009231.2:p.Ile1391Val | |
| NR_027676.1:n.4307A>G | ||
| NM_007294.4:c.4171A>G MANE Select | NP_009225.1:p.Ile1391Val | |
| NM_007297.4:c.4030A>G | NP_009228.2:p.Ile1344Val | |
| NM_007299.4:c.862A>G | NP_009230.2:p.Ile288Val | |
| NM_007300.4:c.4171A>G | NP_009231.2:p.Ile1391Val | |
| NR_027676.2:n.4348A>G |