gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112061098C>T , CM000668.2:g.112061098C>T | GRCh38 |
| NC_000006.11:g.112382301C>T , CM000668.1:g.112382301C>T | GRCh37 |
| NC_000006.10:g.112488994C>T | NCBI36 |
| NG_011748.1:g.12024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.156C>T MANE Select | ENSP00000357655.4:p.Cys52= | |
| ENST00000639360.1:c.60C>T | ENSP00000491774.1:p.Cys20= | |
| ENST00000230529.9:c.156C>T | ENSP00000230529.5:p.Cys52= | |
| ENST00000361714.5:c.156C>T | ENSP00000354734.2:p.Cys52= | |
| ENST00000368663.4:c.156C>T | ENSP00000357652.4:p.Cys52= | |
| ENST00000368664.7:c.210C>T | ENSP00000357653.3:p.Cys70= | |
| ENST00000368666.6:c.210C>T | ENSP00000357655.3:p.Cys70= | |
| ENST00000409166.5:c.-507-181C>T | ENSP00000386467.1:n.-507-181C>T | |
| ENST00000454589.5:c.156C>T | ENSP00000395928.1:p.Cys52= | |
| ENST00000604763.5:c.156C>T | ENSP00000473777.1:p.Cys52= | |
| ENST00000620524.3:n.90C>T | ||
| NM_003880.3:c.156C>T | NP_003871.1:p.Cys52= | |
| NM_198239.1:c.210C>T | NP_937882.1:p.Cys70= | |
| NR_125353.1:n.346C>T | ||
| NR_125354.1:n.266C>T | ||
| XM_011536220.1:c.156C>T | XP_011534522.1:p.Cys52= | |
| XM_011536221.1:c.219C>T | XP_011534523.1:p.Cys73= | |
| XM_011536222.1:c.294C>T | XP_011534524.1:p.Cys98= | |
| XM_011536222.2:c.219C>T | XP_011534524.2:p.Cys73= | |
| XR_001743705.1:n.694C>T | ||
| NM_003880.4:c.156C>T | NP_003871.1:p.Cys52= | |
| NM_198239.2:c.156C>T MANE Select | NP_937882.2:p.Cys52= | |
| NR_125353.2:n.410C>T | ||
| NR_125354.3:n.237C>T |