Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94769846A>C , CM000676.2:g.94769846A>C | GRCh38 |
| NC_000014.8:g.95236183A>C , CM000676.1:g.95236183A>C | GRCh37 |
| NC_000014.7:g.94305936A>C | NCBI36 |
| NG_034111.1:g.5317T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.170T>G MANE Select | NP_776248.1:p.Phe57Cys |
| ENST00000238558.5:c.170T>G MANE Select | ENSP00000238558.3:p.Phe57Cys |
| NM_173849.2:c.170T>G | NP_776248.1:p.Phe57Cys |
| ENST00000238558.4:c.170T>G | ENSP00000238558.3:p.Phe57Cys |