Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130759C= , CM000668.2:g.18130759C= | GRCh38 |
| NC_000006.11:g.18130990C= , CM000668.1:g.18130990C= | GRCh37 |
| NC_000006.10:g.18238969C= | NCBI36 |
| NG_012137.2:g.29385G= | |
| NG_012137.3:g.29385G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.647G= MANE Select | ENSP00000312304.4:p.Cys216= | |
| ENST00000309983.4:c.647G= | ENSP00000312304.4:p.Cys216= | |
| NM_000367.3:c.647G= | NP_000358.1:p.Cys216= | |
| XM_011514839.1:c.602G= | XP_011513141.1:p.Cys201= | |
| XM_011514840.1:c.578G= | XP_011513142.1:p.Cys193= | |
| NM_000367.4:c.647G= | NP_000358.1:p.Cys216= | |
| NM_001346817.1:c.647G= | NP_001333746.1:p.Cys216= | |
| NM_001346818.1:c.602G= | NP_001333747.1:p.Cys201= | |
| NM_000367.5:c.647G= MANE Select | NP_000358.1:p.Cys216= |