Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48530735A>T , CM000679.2:g.48530735A>T | GRCh38 |
| NC_000017.10:g.46608097A>T , CM000679.1:g.46608097A>T | GRCh37 |
| NC_000017.9:g.43963096A>T | NCBI36 |
| NG_032884.1:g.5176T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239174.7:c.170T>A MANE Select | ENSP00000355140.5:p.Phe57Tyr | |
| ENST00000239174.6:c.170T>A | ENSP00000355140.5:p.Phe57Tyr | |
| ENST00000577092.1:c.170T>A | ENSP00000459066.1:p.Phe57Tyr | |
| NM_002144.3:c.170T>A | NP_002135.2:p.Phe57Tyr | |
| NM_002144.4:c.170T>A MANE Select | NP_002135.2:p.Phe57Tyr |