Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647150C>A , CM000666.2:g.68647150C>A | GRCh38 |
| NC_000004.11:g.69512868C>A , CM000666.1:g.69512868C>A | GRCh37 |
| NC_000004.10:g.69195463C>A | NCBI36 |
| NG_052676.1:g.28627G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1547G>T MANE Select | ENSP00000341045.5:p.Cys516Phe | |
| ENST00000338206.5:c.1547G>T | ENSP00000341045.5:p.Cys516Phe | |
| ENST00000616841.4:c.1547G>T | ENSP00000482004.1:p.Cys516Phe | |
| NM_001076.3:c.1547G>T | NP_001067.2:p.Cys516Phe | |
| NM_001076.4:c.1547G>T MANE Select | NP_001067.2:p.Cys516Phe |