Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10927305A>T , CM000668.2:g.10927305A>T | GRCh38 |
| NC_000006.11:g.10927538A>T , CM000668.1:g.10927538A>T | GRCh37 |
| NC_000006.10:g.11035524A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283141.11:c.1378A>T MANE Select | ENSP00000283141.6:p.Thr460Ser | |
| ENST00000283141.10:c.1378A>T | ENSP00000283141.6:p.Thr460Ser | |
| ENST00000341041.8:c.*556A>T | ENSP00000340320.4:n.*556A>T | |
| ENST00000480294.1:c.*1274+873A>T | ENSP00000417929.1:n.*1274+873A>T | |
| ENST00000543878.5:c.1375A>T | ENSP00000440676.2:p.Thr459Ser | |
| NM_001040274.2:c.1378A>T | NP_001035364.2:p.Thr460Ser | |
| NM_001040274.3:c.1378A>T MANE Select | NP_001035364.2:p.Thr460Ser |