ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001299 (NFE)
Exomes Max Group AF
0.00001297 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11819590C>T , CM000664.2:g.11819590C>T | GRCh38 |
| NC_000002.11:g.11959716C>T , CM000664.1:g.11959716C>T | GRCh37 |
| NC_000002.10:g.11877167C>T | NCBI36 |
| NG_012843.2:g.147012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674199.1:c.2509C>T MANE Select | ENSP00000501331.1:p.Arg837Ter | |
| ENST00000256720.6:c.2401C>T | ENSP00000256720.2:p.Arg801Ter | |
| ENST00000396097.5:c.2527C>T | ENSP00000379404.2:p.Arg843Ter | |
| ENST00000396099.5:c.*416C>T | ENSP00000379406.2:n.*416C>T | |
| ENST00000404113.6:n.1994C>T | ||
| ENST00000425416.6:c.2419C>T | ENSP00000401522.2:p.Arg807Ter | |
| ENST00000449576.6:c.2656C>T | ENSP00000397908.2:p.Arg886Ter | |
| ENST00000475922.1:n.3438C>T | ||
| NM_001261427.1:c.2419C>T | NP_001248356.1:p.Arg807Ter | |
| NM_001261428.1:c.2656C>T | NP_001248357.1:p.Arg886Ter | |
| NM_145693.2:c.2401C>T | NP_663731.1:p.Arg801Ter | |
| XM_006711869.1:c.2548C>T | XP_006711932.1:p.Arg850Ter | |
| XM_006711870.2:c.2527C>T | XP_006711933.1:p.Arg843Ter | |
| XM_006711871.1:c.2509C>T | XP_006711934.1:p.Arg837Ter | |
| XM_006711872.1:c.2509C>T | XP_006711935.1:p.Arg837Ter | |
| XM_006711874.1:c.2509C>T | XP_006711937.1:p.Arg837Ter | |
| XM_011510333.1:c.2653C>T | XP_011508635.1:p.Arg885Ter | |
| XM_011510334.1:c.2527C>T | XP_011508636.1:p.Arg843Ter | |
| XM_011510335.1:c.2509C>T | XP_011508637.1:p.Arg837Ter | |
| XM_011510336.1:c.2509C>T | XP_011508638.1:p.Arg837Ter | |
| NM_001261427.2:c.2419C>T | NP_001248356.1:p.Arg807Ter | |
| NM_001261428.2:c.2656C>T | NP_001248357.1:p.Arg886Ter | |
| NM_001349199.1:c.2401C>T | NP_001336128.1:p.Arg801Ter | |
| NM_001349200.1:c.2479C>T | NP_001336129.1:p.Arg827Ter | |
| NM_001349201.1:c.2479C>T | NP_001336130.1:p.Arg827Ter | |
| NM_001349202.1:c.2506C>T | NP_001336131.1:p.Arg836Ter | |
| NM_001349203.1:c.2506C>T | NP_001336132.1:p.Arg836Ter | |
| NM_001349204.1:c.2509C>T | NP_001336133.1:p.Arg837Ter | |
| NM_001349205.1:c.2509C>T | NP_001336134.1:p.Arg837Ter | |
| NM_001349206.1:c.2509C>T | NP_001336135.1:p.Arg837Ter | |
| NM_001349207.1:c.2599C>T | NP_001336136.1:p.Arg867Ter | |
| NM_001349208.1:c.2548C>T | NP_001336137.1:p.Arg850Ter | |
| NM_145693.3:c.2401C>T | NP_663731.1:p.Arg801Ter | |
| NR_146080.1:n.2497C>T | ||
| XM_006711870.4:c.2527C>T | XP_006711933.1:p.Arg843Ter | |
| XM_006711872.3:c.2509C>T | XP_006711935.1:p.Arg837Ter | |
| XM_011510333.2:c.2653C>T | XP_011508635.1:p.Arg885Ter | |
| XM_011510334.3:c.2527C>T | XP_011508636.1:p.Arg843Ter | |
| XM_011510335.3:c.2509C>T | XP_011508637.1:p.Arg837Ter | |
| XM_011510336.3:c.2509C>T | XP_011508638.1:p.Arg837Ter | |
| XM_017003623.2:c.2578C>T | XP_016859112.1:p.Arg860Ter | |
| XM_017003624.2:c.2509C>T | XP_016859113.1:p.Arg837Ter | |
| XM_017003625.2:c.2509C>T | XP_016859114.1:p.Arg837Ter | |
| XM_017003627.2:c.2506C>T | XP_016859116.1:p.Arg836Ter | |
| XM_017003628.2:c.2401C>T | XP_016859117.1:p.Arg801Ter | |
| XM_017003629.1:c.2401C>T | XP_016859118.1:p.Arg801Ter | |
| XM_017003630.2:c.2401C>T | XP_016859119.1:p.Arg801Ter | |
| XM_024452762.1:c.2509C>T | XP_024308530.1:p.Arg837Ter | |
| XM_024452763.1:c.2419C>T | XP_024308531.1:p.Arg807Ter | |
| NM_001261428.3:c.2656C>T | NP_001248357.1:p.Arg886Ter | |
| NM_001349199.2:c.2401C>T | NP_001336128.1:p.Arg801Ter | |
| NM_001349200.2:c.2479C>T | NP_001336129.1:p.Arg827Ter | |
| NM_001349201.2:c.2479C>T | NP_001336130.1:p.Arg827Ter | |
| NM_001349202.2:c.2506C>T | NP_001336131.1:p.Arg836Ter | |
| NM_001349203.2:c.2506C>T | NP_001336132.1:p.Arg836Ter | |
| NM_001349204.2:c.2509C>T | NP_001336133.1:p.Arg837Ter | |
| NM_001349206.2:c.2509C>T MANE Select | NP_001336135.1:p.Arg837Ter | |
| NM_001349207.2:c.2599C>T | NP_001336136.1:p.Arg867Ter | |
| NM_001349208.2:c.2548C>T | NP_001336137.1:p.Arg850Ter | |
| NM_145693.4:c.2401C>T | NP_663731.1:p.Arg801Ter | |
| NR_146080.2:n.2450C>T | ||
| NM_001261427.3:c.2419C>T | NP_001248356.1:p.Arg807Ter | |
| NM_001349205.2:c.2509C>T | NP_001336134.1:p.Arg837Ter |