gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90809232C>T , CM000677.2:g.90809232C>T | GRCh38 |
| NC_000015.9:g.91352462C>T , CM000677.1:g.91352462C>T | GRCh37 |
| NC_000015.8:g.89153466C>T | NCBI36 |
| NG_007272.1:g.96861C>T , LRG_20:g.96861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3847C>T MANE Select | ENSP00000347232.3:p.Gln1283Ter | |
| ENST00000560559.2:n.2420C>T | ||
| ENST00000648453.1:c.3847C>T | ENSP00000497646.1:p.Gln1283Ter | |
| ENST00000680772.1:c.3847C>T | ENSP00000506117.1:p.Gln1283Ter | |
| ENST00000681142.1:c.3847C>T | ENSP00000506682.1:p.Gln1283Ter | |
| ENST00000355112.7:c.3847C>T | ENSP00000347232.3:p.Gln1283Ter | |
| ENST00000558825.5:n.1194C>T | ||
| ENST00000559724.5:c.*2771C>T | ENSP00000453359.1:n.*2771C>T | |
| ENST00000560136.5:n.1873C>T | ||
| ENST00000560509.5:c.3454C>T | ENSP00000454158.1:p.Gln1152Ter | |
| ENST00000560821.1:n.267C>T | ||
| NM_000057.3:c.3847C>T | NP_000048.1:p.Gln1283Ter | |
| NM_001287246.1:c.3847C>T | NP_001274175.1:p.Gln1283Ter | |
| NM_001287247.1:c.3454C>T | NP_001274176.1:p.Gln1152Ter | |
| NM_001287248.1:c.2722C>T | NP_001274177.1:p.Gln908Ter | |
| XM_006720632.2:c.1885C>T | XP_006720695.1:p.Gln629Ter | |
| XM_011521881.1:c.2533C>T | XP_011520183.1:p.Gln845Ter | |
| XM_011521881.2:c.2533C>T | XP_011520183.1:p.Gln845Ter | |
| NM_000057.4:c.3847C>T MANE Select | NP_000048.1:p.Gln1283Ter | |
| NM_001287246.2:c.3847C>T | NP_001274175.1:p.Gln1283Ter | |
| NM_001287247.2:c.3454C>T | NP_001274176.1:p.Gln1152Ter | |
| NM_001287248.2:c.2722C>T | NP_001274177.1:p.Gln908Ter |