Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162333100G>A , CM000663.2:g.162333100G>A | GRCh38 |
| NC_000001.10:g.162302890G>A , CM000663.1:g.162302890G>A | GRCh37 |
| NC_000001.9:g.160569514G>A | NCBI36 |
| NG_015979.1:g.268310G>A | |
| NG_015979.2:g.268310G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014697.3:c.428G>A MANE Select | NP_055512.1:p.Cys143Tyr |
| ENST00000361897.10:c.428G>A MANE Select | ENSP00000355133.5:p.Cys143Tyr |
| NM_001164757.1:c.413G>A | NP_001158229.1:p.Cys138Tyr |
| NM_001164757.2:c.413G>A | NP_001158229.1:p.Cys138Tyr |
| NM_014697.2:c.428G>A | NP_055512.1:p.Cys143Tyr |
| ENST00000361897.9:c.428G>A | ENSP00000355133.5:p.Cys143Tyr |
| ENST00000430120.3:c.413G>A | ENSP00000396713.3:p.Cys138Tyr |
| ENST00000530878.5:c.413G>A | ENSP00000431586.1:p.Cys138Tyr |