Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670326A>T , CM000666.2:g.68670326A>T | GRCh38 |
| NC_000004.11:g.69536044A>T , CM000666.1:g.69536044A>T | GRCh37 |
| NC_000004.10:g.69218639A>T | NCBI36 |
| NG_052676.1:g.5451T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.293T>A MANE Select | ENSP00000341045.5:p.Ile98Lys | |
| ENST00000338206.5:c.293T>A | ENSP00000341045.5:p.Ile98Lys | |
| ENST00000616841.4:c.293T>A | ENSP00000482004.1:p.Ile98Lys | |
| NM_001076.3:c.293T>A | NP_001067.2:p.Ile98Lys | |
| NM_001076.4:c.293T>A MANE Select | NP_001067.2:p.Ile98Lys |