Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.168598828T= , CM000668.2:g.168598828T= | GRCh38 |
| NC_000006.11:g.168999508T= , CM000668.1:g.168999508T= | GRCh37 |
| NC_000006.10:g.168741433T= | NCBI36 |
| NG_032781.1:g.162678T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001166412.2:c.648T= MANE Select | NP_001159884.1:p.Cys216= |
| ENST00000356284.7:c.648T= MANE Select | ENSP00000348630.3:p.Cys216= |
| NM_001166412.1:c.648T= | NP_001159884.1:p.Cys216= |
| NM_022138.2:c.681T= | NP_071421.1:p.Cys227= |
| NM_022138.3:c.681T= | NP_071421.1:p.Cys227= |
| ENST00000354536.9:c.681T= | ENSP00000346537.5:p.Cys227= |
| ENST00000356284.6:c.648T= | ENSP00000348630.2:p.Cys216= |
| XM_011536065.1:c.681T= | XP_011534367.1:p.Cys227= |
| XM_011536066.1:c.648T= | XP_011534368.1:p.Cys216= |