ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004278 (AMR)
Genomes Max Group AF
0.00003327 (AMR)
Exomes Max Group AF
0.00002258 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21609318C>T , CM000685.2:g.21609318C>T | GRCh38 |
| NC_000023.10:g.21627436C>T , CM000685.1:g.21627436C>T | GRCh37 |
| NC_000023.9:g.21537357C>T | NCBI36 |
| NG_016266.1:g.239901C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279451.9:c.2303C>T | ENSP00000279451.5:p.Ala768Val | |
| ENST00000379510.5:c.2393C>T MANE Select | ENSP00000368824.3:p.Ala798Val | |
| ENST00000425654.7:c.2303C>T | ENSP00000397906.2:p.Ala768Val | |
| ENST00000543067.6:c.2246C>T | ENSP00000444633.1:p.Ala749Val | |
| ENST00000642359.1:c.2393C>T | ENSP00000496709.1:p.Ala798Val | |
| ENST00000642501.1:c.1472C>T | ENSP00000495189.1:p.Ala491Val | |
| ENST00000642853.1:n.2171C>T | ||
| ENST00000643156.1:c.1225C>T | ||
| ENST00000643171.1:c.*340C>T | ENSP00000496186.1:n.*340C>T | |
| ENST00000643220.1:c.2144C>T | ENSP00000495012.1:p.Ala715Val | |
| ENST00000643313.1:c.1545C>T | ||
| ENST00000644075.1:n.1759C>T | ||
| ENST00000644095.1:c.2246C>T | ENSP00000496088.1:p.Ala749Val | |
| ENST00000644295.1:c.2318C>T | ENSP00000495501.1:p.Ala773Val | |
| ENST00000644585.1:c.2246C>T | ENSP00000495954.1:p.Ala749Val | |
| ENST00000645074.1:c.1742C>T | ENSP00000496573.1:p.Ala581Val | |
| ENST00000645245.1:c.2156C>T | ENSP00000495695.1:p.Ala719Val | |
| ENST00000645539.1:n.590C>T | ||
| ENST00000645791.1:c.2156C>T | ENSP00000494906.1:p.Ala719Val | |
| ENST00000646690.1:n.401C>T | ||
| ENST00000646697.1:c.2409C>T | ||
| ENST00000647058.1:n.942C>T | ||
| ENST00000647349.1:n.1697C>T | ||
| ENST00000647532.1:n.6152C>T | ||
| ENST00000279451.8:c.2393C>T | ENSP00000279451.4:p.Ala798Val | |
| ENST00000379510.3:c.2393C>T | ENSP00000368824.3:p.Ala798Val | |
| ENST00000425654.6:c.2303C>T | ENSP00000397906.2:p.Ala768Val | |
| ENST00000543067.5:c.2246C>T | ENSP00000444633.1:p.Ala749Val | |
| NM_001168647.1:c.2303C>T | NP_001162118.1:p.Ala768Val | |
| NM_001168648.1:c.2393C>T | NP_001162119.1:p.Ala798Val | |
| NM_001168649.1:c.2246C>T | NP_001162120.1:p.Ala749Val | |
| NM_014927.3:c.2393C>T | NP_055742.2:p.Ala798Val | |
| XM_011545471.1:c.2303C>T | XP_011543773.1:p.Ala768Val | |
| XM_011545472.1:c.2246C>T | XP_011543774.1:p.Ala749Val | |
| NM_001168647.2:c.2303C>T | NP_001162118.1:p.Ala768Val | |
| NM_001168648.2:c.2393C>T | NP_001162119.1:p.Ala798Val | |
| NM_001168649.2:c.2246C>T | NP_001162120.1:p.Ala749Val | |
| NM_001330770.1:c.2246C>T | NP_001317699.1:p.Ala749Val | |
| NM_001330771.1:c.2156C>T | NP_001317700.1:p.Ala719Val | |
| NM_001330772.1:c.2156C>T | NP_001317701.1:p.Ala719Val | |
| NM_001330773.1:c.2303C>T | NP_001317702.1:p.Ala768Val | |
| NM_014927.4:c.2393C>T | NP_055742.2:p.Ala798Val | |
| XM_011545471.3:c.2303C>T | XP_011543773.1:p.Ala768Val | |
| XM_011545472.3:c.2246C>T | XP_011543774.1:p.Ala749Val | |
| XM_017029358.2:c.2156C>T | XP_016884847.1:p.Ala719Val | |
| NM_014927.5:c.2393C>T MANE Select | NP_055742.2:p.Ala798Val | |
| NM_001168647.3:c.2303C>T | NP_001162118.1:p.Ala768Val | |
| NM_001168648.3:c.2393C>T | NP_001162119.1:p.Ala798Val | |
| NM_001168649.3:c.2246C>T | NP_001162120.1:p.Ala749Val | |
| NM_001330770.2:c.2246C>T | NP_001317699.1:p.Ala749Val | |
| NM_001330771.2:c.2156C>T | NP_001317700.1:p.Ala719Val | |
| NM_001330772.2:c.2156C>T | NP_001317701.1:p.Ala719Val | |
| NM_001330773.2:c.2303C>T | NP_001317702.1:p.Ala768Val |