gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041015 (NFE)
Genomes Max Group AF
0.00025537 (NFE)
Exomes Max Group AF
0.00041334 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56956889G>A , CM000663.2:g.56956889G>A | GRCh38 |
| NC_000001.10:g.57422562G>A , CM000663.1:g.57422562G>A | GRCh37 |
| NC_000001.9:g.57195150G>A | NCBI36 |
| NG_007285.1:g.14127C>T , LRG_31:g.14127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468990.2:c.*112C>T | ENSP00000512215.1:n.*112C>T | |
| ENST00000494324.2:c.*376C>T | ENSP00000512216.1:n.*376C>T | |
| ENST00000695842.1:c.271C>T | ENSP00000512214.1:p.Gln91Ter | |
| ENST00000695843.1:c.*112C>T | ENSP00000512217.1:n.*112C>T | |
| ENST00000696144.1:c.271C>T | ENSP00000512436.1:p.Gln91Ter | |
| ENST00000696164.1:c.271C>T | ENSP00000512454.1:p.Gln91Ter | |
| ENST00000696165.1:c.*112C>T | ENSP00000512455.1:n.*112C>T | |
| ENST00000696166.1:c.*112C>T | ENSP00000512456.1:n.*112C>T | |
| ENST00000371237.9:c.271C>T MANE Select | ENSP00000360281.4:p.Gln91Ter | |
| ENST00000371237.8:c.271C>T | ENSP00000360281.4:p.Gln91Ter | |
| ENST00000468990.1:n.509C>T | ||
| ENST00000535057.5:c.85C>T | ENSP00000440113.1:p.Gln29Ter | |
| ENST00000543257.5:c.115C>T | ENSP00000442548.1:p.Gln39Ter | |
| NM_000066.3:c.271C>T | NP_000057.2:p.Gln91Ter | |
| NM_001278543.1:c.115C>T | NP_001265472.1:p.Gln39Ter | |
| NM_001278544.1:c.85C>T | NP_001265473.1:p.Gln29Ter | |
| XM_017002235.1:c.271C>T | XP_016857724.1:p.Gln91Ter | |
| XR_001737397.1:n.371C>T | ||
| NM_000066.4:c.271C>T MANE Select | NP_000057.3:p.Gln91Ter | |
| NM_001278543.2:c.115C>T | NP_001265472.2:p.Gln39Ter | |
| NM_001278544.2:c.85C>T | NP_001265473.2:p.Gln29Ter |