Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670449G>A , CM000666.2:g.68670449G>A | GRCh38 |
| NC_000004.11:g.69536167G>A , CM000666.1:g.69536167G>A | GRCh37 |
| NC_000004.10:g.69218762G>A | NCBI36 |
| NG_052676.1:g.5328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.170C>T MANE Select | ENSP00000341045.5:p.Thr57Ile | |
| ENST00000338206.5:c.170C>T | ENSP00000341045.5:p.Thr57Ile | |
| ENST00000616841.4:c.170C>T | ENSP00000482004.1:p.Thr57Ile | |
| NM_001076.3:c.170C>T | NP_001067.2:p.Thr57Ile | |
| NM_001076.4:c.170C>T MANE Select | NP_001067.2:p.Thr57Ile |