Revel Score:
ENST00000357654 (MANE Select)
0.162
ENST00000412061
0.162
ENST00000352993
0.162
ENST00000351666
0.162
ENST00000309486
0.162
ENST00000468300
0.162
ENST00000393691
0.162
ENST00000471181
0.162
ENST00000493795
0.162
ENST00000491747
0.162
ENST00000478531
0.162
ENST00000484087
0.162
ENST00000493919
0.162
ENST00000487825
0.162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076577T>C , CM000679.2:g.43076577T>C | GRCh38 |
| NC_000017.10:g.41228594T>C , CM000679.1:g.41228594T>C | GRCh37 |
| NC_000017.9:g.38482120T>C | NCBI36 |
| NG_005905.2:g.141407A>G , LRG_292:g.141407A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4392A>G | ENSP00000417241.2:p.Ile1464Met | |
| ENST00000470026.6:c.4395A>G | ENSP00000419274.2:p.Ile1465Met | |
| ENST00000473961.6:c.4269A>G | ENSP00000420201.2:p.Ile1423Met | |
| ENST00000476777.6:c.4389A>G | ENSP00000417554.2:p.Ile1463Met | |
| ENST00000477152.6:c.4317A>G | ENSP00000419988.2:p.Ile1439Met | |
| ENST00000478531.6:c.1083A>G | ENSP00000420412.2:p.Ile361Met | |
| ENST00000489037.2:c.4317A>G | ENSP00000420781.2:p.Ile1439Met | |
| ENST00000493919.6:c.945A>G | ENSP00000418819.2:p.Ile315Met | |
| ENST00000494123.6:c.4395A>G | ENSP00000419103.2:p.Ile1465Met | |
| ENST00000497488.2:c.3507A>G | ENSP00000418986.2:p.Ile1169Met | |
| ENST00000618469.2:c.4395A>G | ENSP00000478114.2:p.Ile1465Met | |
| ENST00000634433.2:c.4272A>G | ENSP00000489431.2:p.Ile1424Met | |
| ENST00000644379.2:c.4461A>G | ENSP00000496570.2:p.Ile1487Met | |
| ENST00000644555.2:c.945A>G | ENSP00000494614.2:p.Ile315Met | |
| ENST00000652672.2:c.4254A>G | ENSP00000498906.2:p.Ile1418Met | |
| ENST00000484087.6:c.957A>G | ENSP00000419481.2:p.Ile319Met | |
| ENST00000700182.1:c.1002A>G | ENSP00000514849.1:p.Ile334Met | |
| ENST00000357654.9:c.4395A>G MANE Select | ENSP00000350283.3:p.Ile1465Met | |
| ENST00000471181.7:c.4458A>G | ENSP00000418960.2:p.Ile1486Met | |
| ENST00000644379.1:c.782A>G | ||
| ENST00000352993.7:c.969A>G | ENSP00000312236.5:p.Ile323Met | |
| ENST00000357654.7:c.4395A>G | ENSP00000350283.3:p.Ile1465Met | |
| ENST00000461221.5:c.*4178A>G | ENSP00000418548.1:n.*4178A>G | |
| ENST00000461574.1:c.686A>G | ||
| ENST00000468300.5:c.1083A>G | ENSP00000417148.1:p.Ile361Met | |
| ENST00000471181.6:c.4458A>G | ENSP00000418960.2:p.Ile1486Met | |
| ENST00000478531.5:c.1083A>G | ENSP00000420412.1:p.Ile361Met | |
| ENST00000484087.5:c.708A>G | ENSP00000419481.1:p.Ile236Met | |
| ENST00000487825.5:c.711A>G | ENSP00000418212.1:p.Ile237Met | |
| ENST00000491747.6:c.1083A>G | ENSP00000420705.2:p.Ile361Met | |
| ENST00000493795.5:c.4254A>G | ENSP00000418775.1:p.Ile1418Met | |
| ENST00000493919.5:c.945A>G | ENSP00000418819.1:p.Ile315Met | |
| ENST00000586385.5:c.5-12626A>G | ENSP00000465818.1:n.5-12626A>G | |
| ENST00000591534.5:c.-43-2056A>G | ENSP00000467329.1:n.-43-2056A>G | |
| ENST00000591849.5:c.-98-26387A>G | ENSP00000465347.1:n.-98-26387A>G | |
| ENST00000621897.1:n.286A>G | ||
| NM_007294.3:c.4395A>G , LRG_292t1:c.4395A>G | NP_009225.1:p.Ile1465Met | |
| NM_007297.3:c.4254A>G | NP_009228.2:p.Ile1418Met | |
| NM_007298.3:c.1083A>G | NP_009229.2:p.Ile361Met | |
| NM_007299.3:c.1083A>G | NP_009230.2:p.Ile361Met | |
| NM_007300.3:c.4458A>G | NP_009231.2:p.Ile1486Met | |
| NR_027676.1:n.4531A>G | ||
| NM_007294.4:c.4395A>G MANE Select | NP_009225.1:p.Ile1465Met | |
| NM_007297.4:c.4254A>G | NP_009228.2:p.Ile1418Met | |
| NM_007299.4:c.1083A>G | NP_009230.2:p.Ile361Met | |
| NM_007300.4:c.4458A>G | NP_009231.2:p.Ile1486Met | |
| NR_027676.2:n.4572A>G |