gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.168598828T>C , CM000668.2:g.168598828T>C | GRCh38 |
| NC_000006.11:g.168999508T>C , CM000668.1:g.168999508T>C | GRCh37 |
| NC_000006.10:g.168741433T>C | NCBI36 |
| NG_032781.1:g.162678T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356284.7:c.648T>C MANE Select | ENSP00000348630.3:p.Cys216= | |
| ENST00000354536.9:c.681T>C | ENSP00000346537.5:p.Cys227= | |
| ENST00000356284.6:c.648T>C | ENSP00000348630.2:p.Cys216= | |
| NM_001166412.1:c.648T>C | NP_001159884.1:p.Cys216= | |
| NM_022138.2:c.681T>C | NP_071421.1:p.Cys227= | |
| XM_011536065.1:c.681T>C | XP_011534367.1:p.Cys227= | |
| XM_011536066.1:c.648T>C | XP_011534368.1:p.Cys216= | |
| NM_001166412.2:c.648T>C MANE Select | NP_001159884.1:p.Cys216= | |
| NM_022138.3:c.681T>C | NP_071421.1:p.Cys227= |