ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006236 (AFR)
Genomes Max Group AF
0.00007896 (AFR)
Exomes Max Group AF
0.00002201 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45376612T>C , CM000677.2:g.45376612T>C | GRCh38 |
| NC_000015.9:g.45668810T>C , CM000677.1:g.45668810T>C | GRCh37 |
| NC_000015.8:g.43456102T>C | NCBI36 |
| NG_011674.1:g.7171A>G | |
| NG_011674.2:g.30706A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.277A>G MANE Select | ENSP00000379895.3:p.Ile93Val | |
| ENST00000674905.1:c.277A>G | ENSP00000502176.1:p.Ile93Val | |
| ENST00000675158.1:c.277A>G | ENSP00000501737.1:p.Ile93Val | |
| ENST00000675323.1:c.277A>G | ENSP00000502445.1:p.Ile93Val | |
| ENST00000675701.1:c.217A>G | ENSP00000502671.1:p.Ile73Val | |
| ENST00000675974.1:n.368A>G | ||
| ENST00000676090.1:c.436A>G | ENSP00000501630.1:p.Ile146Val | |
| ENST00000396659.7:c.277A>G | ENSP00000379895.3:p.Ile93Val | |
| ENST00000558118.1:c.277A>G | ENSP00000452971.1:p.Ile93Val | |
| ENST00000558163.1:c.69+1773A>G | ENSP00000453781.1:n.69+1773A>G | |
| ENST00000558336.5:c.277A>G | ENSP00000454008.1:p.Ile93Val | |
| ENST00000558362.5:n.1933A>G | ||
| ENST00000558537.5:c.-111A>G | ENSP00000453151.1:n.-111A>G | |
| ENST00000559885.1:c.-111A>G | ENSP00000453087.1:n.-111A>G | |
| ENST00000560538.1:n.546A>G | ||
| ENST00000561148.5:c.-111A>G | ENSP00000453860.1:n.-111A>G | |
| NM_001482.2:c.277A>G | NP_001473.1:p.Ile93Val | |
| XM_011521450.1:c.325A>G | XP_011519752.1:p.Ile109Val | |
| XM_011521451.1:c.319A>G | XP_011519753.1:p.Ile107Val | |
| NM_001321015.1:c.-111A>G | NP_001307944.1:n.-111A>G | |
| NM_001482.3:c.277A>G MANE Select | NP_001473.1:p.Ile93Val | |
| NM_001321015.2:c.-111A>G | NP_001307944.1:n.-111A>G |