Revel Score:
ENST00000265689 (MANE Select)
0.038
ENST00000356135
0.038
ENST00000531341
0.038
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002154 (NFE)
Exomes Max Group AF
0.00002201 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68070245A>C , CM000673.2:g.68070245A>C | GRCh38 |
| NC_000011.9:g.67837712A>C , CM000673.1:g.67837712A>C | GRCh37 |
| NC_000011.8:g.67594288A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265689.9:c.813T>G MANE Select | ENSP00000265689.4:p.Ile271Met | |
| ENST00000265689.8:c.813T>G | ENSP00000265689.4:p.Ile271Met | |
| ENST00000356135.9:c.759T>G | ENSP00000348454.4:p.Ile253Met | |
| ENST00000528235.5:n.441T>G | ||
| ENST00000531341.1:c.447T>G | ENSP00000435032.1:p.Ile149Met | |
| ENST00000533910.5:n.704T>G | ||
| NM_001277.2:c.813T>G | NP_001268.2:p.Ile271Met | |
| NM_212469.1:c.759T>G | NP_997634.1:p.Ile253Met | |
| XR_428904.2:n.1024T>G | ||
| XR_428905.1:n.2383T>G | ||
| XR_949772.1:n.970T>G | ||
| XR_949773.1:n.910T>G | ||
| XR_949774.1:n.1741T>G | ||
| XR_949775.1:n.2269T>G | ||
| XR_949776.1:n.199T>G | ||
| XR_949777.1:n.1122T>G | ||
| XM_017017147.1:c.699T>G | XP_016872636.1:p.Ile233Met | |
| XM_017017148.2:c.285T>G | XP_016872637.1:p.Ile95Met | |
| XR_428904.3:n.1025T>G | ||
| XR_428905.3:n.6597T>G | ||
| XR_949772.2:n.953T>G | ||
| XR_949773.2:n.911T>G | ||
| NM_001277.3:c.813T>G MANE Select | NP_001268.2:p.Ile271Met | |
| NM_001376219.1:c.843T>G | NP_001363148.1:p.Ile281Met | |
| NM_001376220.1:c.699T>G | NP_001363149.1:p.Ile233Met | |
| NM_001376221.1:c.447T>G | NP_001363150.1:p.Ile149Met | |
| NM_001376222.1:c.393T>G | NP_001363151.1:p.Ile131Met | |
| NM_212469.2:c.759T>G | NP_997634.1:p.Ile253Met | |
| NR_164782.1:n.1024T>G |