Revel Score:
ENST00000371068 (MANE Select)
0.338
ENST00000433625
0.338
ENST00000538167
0.338
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52438538A>G , CM000668.2:g.52438538A>G | GRCh38 |
| NC_000006.11:g.52303336A>G , CM000668.1:g.52303336A>G | GRCh37 |
| NC_000006.10:g.52411295A>G | NCBI36 |
| NG_016760.1:g.23343A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.520A>G MANE Select | ENSP00000360107.4:p.Ile174Val | |
| ENST00000480623.6:c.520A>G | ENSP00000434498.2:p.Ile174Val | |
| ENST00000635760.1:c.196A>G | ENSP00000489765.1:p.Ile66Val | |
| ENST00000635812.1:c.520A>G | ENSP00000490859.1:p.Ile174Val | |
| ENST00000635866.1:c.*389A>G | ENSP00000489866.1:n.*389A>G | |
| ENST00000635911.1:n.781A>G | ||
| ENST00000635984.1:c.196A>G | ENSP00000489921.1:p.Ile66Val | |
| ENST00000635996.1:c.520A>G | ENSP00000490256.1:p.Ile174Val | |
| ENST00000636107.1:c.520A>G | ENSP00000489680.1:p.Ile174Val | |
| ENST00000636253.1:n.174A>G | ||
| ENST00000636311.1:n.467+84A>G | ||
| ENST00000636343.1:c.186A>G | ||
| ENST00000636379.1:c.286-14150A>G | ENSP00000490622.1:n.286-14150A>G | |
| ENST00000636398.1:c.187A>G | ENSP00000489654.1:p.Ile63Val | |
| ENST00000636489.1:c.463A>G | ENSP00000489998.1:p.Ile155Val | |
| ENST00000636566.1:c.196A>G | ENSP00000490602.1:p.Ile66Val | |
| ENST00000636702.1:c.490A>G | ENSP00000489623.1:p.Ile164Val | |
| ENST00000636954.1:c.463A>G | ENSP00000489966.1:p.Ile155Val | |
| ENST00000637089.1:c.520A>G | ENSP00000489854.1:p.Ile174Val | |
| ENST00000637200.1:c.*536A>G | ENSP00000490567.1:n.*536A>G | |
| ENST00000637263.1:c.520A>G | ENSP00000489700.1:p.Ile174Val | |
| ENST00000637340.1:n.1188A>G | ||
| ENST00000637353.1:c.520A>G | ENSP00000490441.1:p.Ile174Val | |
| ENST00000637602.1:c.*221A>G | ENSP00000490074.1:n.*221A>G | |
| ENST00000637849.1:n.584A>G | ||
| ENST00000637892.1:n.724A>G | ||
| ENST00000638075.1:c.-99A>G | ENSP00000490711.1:n.-99A>G | |
| ENST00000371068.9:c.520A>G | ENSP00000360107.4:p.Ile174Val | |
| ENST00000480623.5:c.520A>G | ENSP00000434498.1:p.Ile174Val | |
| ENST00000491749.1:n.879A>G | ||
| ENST00000538167.2:c.463A>G | ENSP00000444521.1:p.Ile155Val | |
| NM_001172420.1:c.463A>G | NP_001165891.1:p.Ile155Val | |
| NM_018100.3:c.520A>G | NP_060570.2:p.Ile174Val | |
| NR_033327.1:n.735A>G | ||
| NM_018100.4:c.520A>G MANE Select | NP_060570.2:p.Ile174Val | |
| NM_001172420.2:c.463A>G | NP_001165891.1:p.Ile155Val | |
| NR_033327.2:n.589A>G |