gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033813 (NFE)
Genomes Max Group AF
0.00031681 (NFE)
Exomes Max Group AF
0.00033272 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95955996C>T , CM000671.2:g.95955996C>T | GRCh38 |
| NC_000009.11:g.98718278C>T , CM000671.1:g.98718278C>T | GRCh37 |
| NC_000009.10:g.97758099C>T | NCBI36 |
| NG_034107.1:g.85379C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288985.13:c.1930C>T | ENSP00000288985.8:p.Arg644Ter | |
| ENST00000456993.7:c.*1112C>T | ENSP00000409751.2:n.*1112C>T | |
| ENST00000479391.7:c.1392C>T | ||
| ENST00000653324.2:c.*106C>T | ENSP00000499453.1:n.*106C>T | |
| ENST00000682394.1:n.2285C>T | ||
| ENST00000682748.1:c.*1307C>T | ENSP00000507452.1:n.*1307C>T | |
| ENST00000682983.1:c.1930C>T | ENSP00000507518.1:p.Arg644Ter | |
| ENST00000683128.1:c.1930C>T | ENSP00000508232.1:p.Arg644Ter | |
| ENST00000683176.1:n.2462C>T | ||
| ENST00000683227.1:n.2267C>T | ||
| ENST00000683350.1:c.1930C>T | ENSP00000507810.1:p.Arg644Ter | |
| ENST00000683937.1:c.1885C>T | ENSP00000507442.1:p.Arg629Ter | |
| ENST00000683991.1:c.1930C>T | ENSP00000507383.1:p.Arg644Ter | |
| ENST00000288985.12:c.1930C>T | ENSP00000288985.8:p.Arg644Ter | |
| ENST00000402838.3:c.1396C>T | ENSP00000384215.3:p.Arg466Ter | |
| ENST00000456993.6:c.*1112C>T | ENSP00000409751.2:n.*1112C>T | |
| ENST00000653324.1:c.*106C>T | ENSP00000499453.1:n.*106C>T | |
| ENST00000653738.2:c.1930C>T MANE Select | ENSP00000499221.2:p.Arg644Ter | |
| ENST00000659728.1:c.1930C>T | ENSP00000499575.1:p.Arg644Ter | |
| ENST00000661047.1:c.1930C>T | ENSP00000499236.1:p.Arg644Ter | |
| ENST00000670016.1:c.1930C>T | ENSP00000499338.1:p.Arg644Ter | |
| ENST00000288985.11:c.1963C>T | ENSP00000288985.7:p.Arg655Ter | |
| ENST00000456993.5:c.1204C>T | ENSP00000409751.1:n.1204C>T | |
| ENST00000466840.5:n.2970C>T | ||
| ENST00000470362.1:n.129C>T | ||
| ENST00000479391.6:c.784C>T | ||
| NM_001010895.2:c.1963C>T | NP_001010895.1:p.Arg655Ter | |
| NM_020207.4:c.1963C>T | NP_064592.2:p.Arg655Ter | |
| XM_011518641.1:c.1963C>T | XP_011516943.1:p.Arg655Ter | |
| XM_011518642.1:c.1336C>T | XP_011516944.1:p.Arg446Ter | |
| XM_011518643.1:c.1963C>T | XP_011516945.1:p.Arg655Ter | |
| XM_011518644.1:c.1069C>T | XP_011516946.1:p.Arg357Ter | |
| XM_011518645.1:c.1963C>T | XP_011516947.1:p.Arg655Ter | |
| XM_011518646.1:c.1963C>T | XP_011516948.1:p.Arg655Ter | |
| XM_011518647.1:c.1963C>T | XP_011516949.1:p.Arg655Ter | |
| XM_011518648.1:c.298C>T | XP_011516950.1:p.Arg100Ter | |
| XM_011518649.1:c.10C>T | XP_011516951.1:p.Arg4Ter | |
| XM_011518650.1:c.-365C>T | XP_011516952.1:n.-365C>T | |
| XM_011518651.1:c.1963C>T | XP_011516953.1:p.Arg655Ter | |
| XR_929787.1:n.2351C>T | ||
| XR_929788.1:n.2351C>T | ||
| XR_929789.1:n.2546C>T | ||
| XM_011518641.3:c.1963C>T | XP_011516943.1:p.Arg655Ter | |
| XM_011518644.3:c.1069C>T | XP_011516946.1:p.Arg357Ter | |
| XM_011518645.3:c.1963C>T | XP_011516947.1:p.Arg655Ter | |
| XM_011518646.3:c.1963C>T | XP_011516948.1:p.Arg655Ter | |
| XM_011518647.2:c.1963C>T | XP_011516949.1:p.Arg655Ter | |
| XM_011518648.3:c.298C>T | XP_011516950.1:p.Arg100Ter | |
| XM_011518650.3:c.-365C>T | XP_011516952.1:n.-365C>T | |
| XM_017014707.2:c.10C>T | XP_016870196.1:p.Arg4Ter | |
| XR_001746290.2:n.2016C>T | ||
| XR_001746291.2:n.2337C>T | ||
| XR_929789.2:n.2501C>T | ||
| NM_001010895.4:c.1930C>T | NP_001010895.2:p.Arg644Ter | |
| NM_001375291.1:c.1930C>T | NP_001362220.1:p.Arg644Ter | |
| NM_001375292.1:c.1930C>T | NP_001362221.1:p.Arg644Ter | |
| NM_001375293.1:c.1930C>T | NP_001362222.1:p.Arg644Ter | |
| NM_001375294.1:c.1930C>T | NP_001362223.1:p.Arg644Ter | |
| NM_020207.7:c.1930C>T MANE Select | NP_064592.3:p.Arg644Ter | |
| NR_164677.1:n.2278C>T |