COSMIC:
COSM3982511 (not active)
Revel Score:
ENST00000256246
0.036
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7180215 (AFR)
Genomes Max Group AF
0.70884252 (AFR)
Exomes Max Group AF
0.72469144 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30845915T>C , CM000670.2:g.30845915T>C | GRCh38 |
| NC_000008.10:g.30703431T>C , CM000670.1:g.30703431T>C | GRCh37 |
| NC_000008.9:g.30822973T>C | NCBI36 |
| NG_053141.1:g.72098A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256246.5:c.3103A>G | ENSP00000256246.2:p.Ile1035Val | |
| ENST00000638951.1:c.4264A>G | ENSP00000492713.1:p.Ile1422Val | |
| ENST00000643185.2:c.4252A>G MANE Select | ENSP00000493555.1:p.Ile1418Val | |
| ENST00000256246.4:c.3103A>G | ENSP00000256246.2:p.Ile1035Val | |
| NM_031271.3:c.3103A>G | NP_112561.2:p.Ile1035Val | |
| XM_005273575.2:c.4252A>G | XP_005273632.1:p.Ile1418Val | |
| XM_005273576.2:c.3943A>G | XP_005273633.1:p.Ile1315Val | |
| XM_006716369.2:c.4252A>G | XP_006716432.1:p.Ile1418Val | |
| XM_011544588.1:c.4264A>G | XP_011542890.1:p.Ile1422Val | |
| XM_011544589.1:c.4252A>G | XP_011542891.1:p.Ile1418Val | |
| XM_011544590.1:c.4252A>G | XP_011542892.1:p.Ile1418Val | |
| XM_011544591.1:c.4252A>G | XP_011542893.1:p.Ile1418Val | |
| XM_011544592.1:c.4252A>G | XP_011542894.1:p.Ile1418Val | |
| XM_011544593.1:c.3943A>G | XP_011542895.1:p.Ile1315Val | |
| XM_011544594.1:c.4264A>G | XP_011542896.1:p.Ile1422Val | |
| NM_001350162.1:c.4252A>G | NP_001337091.1:p.Ile1418Val | |
| XM_006716369.4:c.4252A>G | XP_006716432.1:p.Ile1418Val | |
| XM_011544588.2:c.4264A>G | XP_011542890.1:p.Ile1422Val | |
| XM_011544589.3:c.4252A>G | XP_011542891.1:p.Ile1418Val | |
| XM_011544590.3:c.4252A>G | XP_011542892.1:p.Ile1418Val | |
| XM_011544591.3:c.4252A>G | XP_011542893.1:p.Ile1418Val | |
| XM_011544592.3:c.4252A>G | XP_011542894.1:p.Ile1418Val | |
| XM_011544593.3:c.3943A>G | XP_011542895.1:p.Ile1315Val | |
| XM_011544594.2:c.4264A>G | XP_011542896.1:p.Ile1422Val | |
| XM_024447196.1:c.4252A>G | XP_024302964.1:p.Ile1418Val | |
| XM_024447197.1:c.3943A>G | XP_024302965.1:p.Ile1315Val | |
| NM_001350162.2:c.4252A>G MANE Select | NP_001337091.1:p.Ile1418Val |