gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002746 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00002455 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77175383C>T , CM000673.2:g.77175383C>T | GRCh38 |
| NC_000011.9:g.76886429C>T , CM000673.1:g.76886429C>T | GRCh37 |
| NC_000011.8:g.76564077C>T | NCBI36 |
| NG_009086.1:g.52120C>T | |
| NG_009086.2:g.52138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.2106C>T MANE Select | ENSP00000386331.3:p.Arg702= | |
| ENST00000409893.6:c.171C>T | ENSP00000386689.2:p.Arg57= | |
| ENST00000409619.6:c.2073C>T | ENSP00000386635.2:p.Arg691= | |
| ENST00000409709.7:c.2106C>T | ENSP00000386331.3:p.Arg702= | |
| ENST00000409893.5:c.2106C>T | ENSP00000386689.1:p.Arg702= | |
| ENST00000458637.6:c.2106C>T | ENSP00000392185.2:p.Arg702= | |
| ENST00000620575.4:c.2106C>T | ENSP00000477640.1:p.Arg702= | |
| NM_000260.3:c.2106C>T | NP_000251.3:p.Arg702= | |
| NM_001127179.2:c.2106C>T | NP_001120651.2:p.Arg702= | |
| NM_001127180.1:c.2106C>T | NP_001120652.1:p.Arg702= | |
| XM_005274012.2:c.2106C>T | XP_005274069.1:p.Arg702= | |
| XM_006718558.2:c.2106C>T | XP_006718621.1:p.Arg702= | |
| XM_006718559.2:c.2106C>T | XP_006718622.1:p.Arg702= | |
| XM_006718560.2:c.2106C>T | XP_006718623.1:p.Arg702= | |
| XM_006718561.2:c.2106C>T | XP_006718624.1:p.Arg702= | |
| XM_011545044.1:c.2106C>T | XP_011543346.1:p.Arg702= | |
| XM_011545045.1:c.2106C>T | XP_011543347.1:p.Arg702= | |
| XM_011545046.1:c.2073C>T | XP_011543348.1:p.Arg691= | |
| XM_011545047.1:c.2106C>T | XP_011543349.1:p.Arg702= | |
| XM_011545048.1:c.2106C>T | XP_011543350.1:p.Arg702= | |
| XM_011545049.1:c.1875C>T | XP_011543351.1:p.Arg625= | |
| XM_011545050.1:c.1848C>T | XP_011543352.1:p.Arg616= | |
| XM_011545051.1:c.2106C>T | XP_011543353.1:p.Arg702= | |
| XM_011545052.1:c.2106C>T | XP_011543354.1:p.Arg702= | |
| XR_949938.1:n.2426C>T | ||
| XR_949941.1:n.2426C>T | ||
| XR_949942.1:n.2428C>T | ||
| XR_949943.1:n.2428C>T | ||
| XM_011545044.2:c.2106C>T | XP_011543346.1:p.Arg702= | |
| XM_011545046.2:c.2196C>T | XP_011543348.2:p.Arg732= | |
| XM_011545050.2:c.1848C>T | XP_011543352.1:p.Arg616= | |
| XM_017017778.1:c.2196C>T | XP_016873267.1:p.Arg732= | |
| XM_017017779.1:c.2196C>T | XP_016873268.1:p.Arg732= | |
| XM_017017780.1:c.2196C>T | XP_016873269.1:p.Arg732= | |
| XM_017017781.1:c.2196C>T | XP_016873270.1:p.Arg732= | |
| XM_017017782.1:c.2196C>T | XP_016873271.1:p.Arg732= | |
| XM_017017783.1:c.2196C>T | XP_016873272.1:p.Arg732= | |
| XM_017017784.1:c.2196C>T | XP_016873273.1:p.Arg732= | |
| XM_017017785.1:c.1965C>T | XP_016873274.1:p.Arg655= | |
| XM_017017786.1:c.2196C>T | XP_016873275.1:p.Arg732= | |
| XM_017017787.1:c.2196C>T | XP_016873276.1:p.Arg732= | |
| XM_017017788.1:c.2196C>T | XP_016873277.1:p.Arg732= | |
| XR_001747885.1:n.2211C>T | ||
| XR_001747886.1:n.2211C>T | ||
| XR_001747887.1:n.2211C>T | ||
| XR_001747888.1:n.2211C>T | ||
| XR_001747889.1:n.2211C>T | ||
| NM_000260.4:c.2106C>T MANE Select | NP_000251.3:p.Arg702= | |
| NM_001127180.2:c.2106C>T | NP_001120652.1:p.Arg702= | |
| NM_001369365.1:c.2073C>T | NP_001356294.1:p.Arg691= |