gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006617 (AMR)
Genomes Max Group AF
0.00005287 (AMR)
Exomes Max Group AF
0.00004359 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37506205C>T , CM000683.2:g.37506205C>T | GRCh38 |
| NC_000021.8:g.38878508C>T , CM000683.1:g.38878508C>T | GRCh37 |
| NC_000021.7:g.37800378C>T | NCBI36 |
| NG_009366.1:g.143650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338785.8:c.1653C>T | ENSP00000342690.3:p.Cys551= | |
| ENST00000398960.7:c.1653C>T | ENSP00000381932.2:p.Cys551= | |
| ENST00000643624.1:c.1626C>T | ENSP00000493627.1:p.Cys542= | |
| ENST00000644942.1:c.1653C>T | ENSP00000494544.1:p.Cys551= | |
| ENST00000645424.1:c.1547-66C>T | ENSP00000494897.1:n.1547-66C>T | |
| ENST00000646224.1:n.1068C>T | ||
| ENST00000646351.1:n.4371C>T | ||
| ENST00000646523.1:c.1653C>T | ENSP00000495632.1:p.Cys551= | |
| ENST00000646548.1:c.1626C>T | ENSP00000495908.1:p.Cys542= | |
| ENST00000647188.2:c.1626C>T MANE Select | ENSP00000494572.1:p.Cys542= | |
| ENST00000647425.1:c.1626C>T | ENSP00000496748.1:p.Cys542= | |
| ENST00000647504.1:c.1539C>T | ENSP00000495571.1:p.Cys513= | |
| ENST00000338785.7:c.1653C>T | ENSP00000342690.3:p.Cys551= | |
| ENST00000339659.8:c.1626C>T | ENSP00000340373.3:p.Cys542= | |
| ENST00000398956.2:c.1546+616C>T | ENSP00000381929.2:n.1546+616C>T | |
| ENST00000398960.6:c.1653C>T | ENSP00000381932.2:p.Cys551= | |
| NM_001396.3:c.1653C>T | NP_001387.2:p.Cys551= | |
| NM_101395.2:c.1653C>T | NP_567824.1:p.Cys551= | |
| NM_130436.2:c.1626C>T | NP_569120.1:p.Cys542= | |
| NM_130438.2:c.1546+616C>T | NP_569122.1:n.1546+616C>T | |
| XM_005260931.3:c.1566C>T | XP_005260988.1:p.Cys522= | |
| XM_005260933.3:c.969C>T | XP_005260990.1:p.Cys323= | |
| XM_006723976.2:c.1653C>T | XP_006724039.1:p.Cys551= | |
| XM_006723977.2:c.1653C>T | XP_006724040.1:p.Cys551= | |
| XM_006723978.2:c.1653C>T | XP_006724041.1:p.Cys551= | |
| XM_006723979.2:c.1626C>T | XP_006724042.1:p.Cys542= | |
| XM_011529482.1:c.1674C>T | XP_011527784.1:p.Cys558= | |
| XM_011529483.1:c.1653C>T | XP_011527785.1:p.Cys551= | |
| XM_011529484.1:c.1647C>T | XP_011527786.1:p.Cys549= | |
| XM_011529485.1:c.1539C>T | XP_011527787.1:p.Cys513= | |
| NM_001347721.1:c.1626C>T | NP_001334650.1:p.Cys542= | |
| NM_001347722.1:c.1626C>T | NP_001334651.1:p.Cys542= | |
| NM_001347723.1:c.1539C>T | NP_001334652.1:p.Cys513= | |
| NM_001396.4:c.1653C>T | NP_001387.2:p.Cys551= | |
| XM_005260933.5:c.969C>T | XP_005260990.1:p.Cys323= | |
| XM_006723976.3:c.1653C>T | XP_006724039.1:p.Cys551= | |
| XM_006723977.3:c.1653C>T | XP_006724040.1:p.Cys551= | |
| XM_006723978.3:c.1653C>T | XP_006724041.1:p.Cys551= | |
| XM_011529483.2:c.1653C>T | XP_011527785.1:p.Cys551= | |
| XM_017028284.1:c.1626C>T | XP_016883773.1:p.Cys542= | |
| XM_017028286.2:c.1566C>T | XP_016883775.1:p.Cys522= | |
| XM_024452057.1:c.1539C>T | XP_024307825.1:p.Cys513= | |
| NM_001347721.2:c.1626C>T MANE Select | NP_001334650.1:p.Cys542= | |
| NM_001347722.2:c.1626C>T | NP_001334651.1:p.Cys542= | |
| NM_001347723.2:c.1539C>T | NP_001334652.1:p.Cys513= | |
| NM_001396.5:c.1653C>T | NP_001387.2:p.Cys551= |