gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008509 (NFE)
Genomes Max Group AF
0.00007907 (NFE)
Exomes Max Group AF
0.00008215 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5905727G>A , CM000663.2:g.5905727G>A | GRCh38 |
| NC_000001.10:g.5965787G>A , CM000663.1:g.5965787G>A | GRCh37 |
| NC_000001.9:g.5888374G>A | NCBI36 |
| NG_011724.2:g.91745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.1668C>T MANE Select | ENSP00000367398.4:p.Thr556= | |
| ENST00000378156.8:c.1668C>T | ENSP00000367398.4:p.Thr556= | |
| ENST00000378169.7:c.*569C>T | ENSP00000367411.3:n.*569C>T | |
| ENST00000478423.6:n.1400C>T | ||
| ENST00000489180.6:c.1665C>T | ENSP00000423747.1:p.Thr555= | |
| ENST00000622020.4:c.1665C>T | ENSP00000481831.2:p.Thr555= | |
| NM_001291593.1:c.129C>T | NP_001278522.1:p.Thr43= | |
| NM_001291594.1:c.132C>T | NP_001278523.1:p.Thr44= | |
| NM_015102.4:c.1668C>T | NP_055917.1:p.Thr556= | |
| NR_111987.1:n.1933C>T | ||
| XM_006710563.2:c.1668C>T | XP_006710626.1:p.Thr556= | |
| XM_006710565.2:c.1668C>T | XP_006710628.1:p.Thr556= | |
| XM_011541213.1:c.1665C>T | XP_011539515.1:p.Thr555= | |
| XM_011541214.1:c.1668C>T | XP_011539516.1:p.Thr556= | |
| XM_011541215.1:c.1557C>T | XP_011539517.1:p.Thr519= | |
| XM_011541216.1:c.1668C>T | XP_011539518.1:p.Thr556= | |
| XM_011541217.1:c.1668C>T | XP_011539519.1:p.Thr556= | |
| XM_011541218.1:c.1668C>T | XP_011539520.1:p.Thr556= | |
| XM_011541219.1:c.1614C>T | XP_011539521.1:p.Thr538= | |
| XM_011541220.1:c.1668C>T | XP_011539522.1:p.Thr556= | |
| XR_946604.1:n.1706C>T | ||
| XR_946605.1:n.1706C>T | ||
| XM_006710563.3:c.1668C>T | XP_006710626.1:p.Thr556= | |
| XM_011541216.2:c.1668C>T | XP_011539518.1:p.Thr556= | |
| XM_011541217.2:c.1668C>T | XP_011539519.1:p.Thr556= | |
| XM_011541218.2:c.1668C>T | XP_011539520.1:p.Thr556= | |
| XM_017000996.1:c.1665C>T | XP_016856485.1:p.Thr555= | |
| XM_017000997.1:c.1668C>T | XP_016856486.1:p.Thr556= | |
| XM_017000998.1:c.1668C>T | XP_016856487.1:p.Thr556= | |
| XM_017000999.1:c.1140C>T | XP_016856488.1:p.Thr380= | |
| XM_017001000.2:c.1140C>T | XP_016856489.1:p.Thr380= | |
| XM_017001001.1:c.870C>T | XP_016856490.1:p.Thr290= | |
| XM_017001002.1:c.1668C>T | XP_016856491.1:p.Thr556= | |
| XM_017001003.1:c.129C>T | XP_016856492.1:p.Thr43= | |
| XR_001737114.1:n.1706C>T | ||
| XR_001737115.1:n.1706C>T | ||
| NM_015102.5:c.1668C>T MANE Select | NP_055917.1:p.Thr556= | |
| NM_001291593.2:c.129C>T | NP_001278522.1:p.Thr43= | |
| NM_001291594.2:c.132C>T | NP_001278523.1:p.Thr44= | |
| NR_111987.2:n.1885C>T |