Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320707G>A , CM000666.2:g.119320707G>A | GRCh38 |
| NC_000004.11:g.120241862G>A , CM000666.1:g.120241862G>A | GRCh37 |
| NC_000004.10:g.120461310G>A | NCBI36 |
| NG_011444.1:g.6455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.203C>T MANE Select | ENSP00000274024.3:p.Thr68Ile | |
| ENST00000274024.3:c.203C>T | ENSP00000274024.3:p.Thr68Ile | |
| NM_000134.3:c.203C>T | NP_000125.2:p.Thr68Ile | |
| NM_000134.4:c.203C>T MANE Select | NP_000125.2:p.Thr68Ile |