Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13728664C>T , CM000673.2:g.13728664C>T | GRCh38 |
| NC_000011.9:g.13750211C>T , CM000673.1:g.13750211C>T | GRCh37 |
| NC_000011.8:g.13706787C>T | NCBI36 |
| NG_041826.1:g.65006C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032228.6:c.1438C>T MANE Select | NP_115604.1:p.Arg480Cys |
| ENST00000354817.8:c.1438C>T MANE Select | ENSP00000346874.3:p.Arg480Cys |
| NM_032228.5:c.1438C>T | NP_115604.1:p.Arg480Cys |
| ENST00000354817.7:c.1438C>T | ENSP00000346874.3:p.Arg480Cys |
| ENST00000532502.1:c.310C>T | ENSP00000434624.1:p.Arg104Cys |
| ENST00000703358.1:c.*263C>T | ENSP00000515269.1:n.*263C>T |
| XM_011520400.1:c.1447C>T | XP_011518702.1:p.Arg483Cys |
| XM_011520400.2:c.1447C>T | XP_011518702.1:p.Arg483Cys |
| XM_011520401.1:c.1270C>T | XP_011518703.1:p.Arg424Cys |