Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529022A>T , CM000665.2:g.129529022A>T | GRCh38 |
| NC_000003.11:g.129247865A>T , CM000665.1:g.129247865A>T | GRCh37 |
| NC_000003.10:g.130730555A>T | NCBI36 |
| NG_009115.1:g.5384A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.289A>T MANE Select | ENSP00000296271.3:p.Thr97Ser | |
| ENST00000296271.3:c.289A>T | ENSP00000296271.3:p.Thr97Ser | |
| NM_000539.3:c.289A>T MANE Select | NP_000530.1:p.Thr97Ser |