Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26020667G>A , CM000668.2:g.26020667G>A | GRCh38 |
| NC_000006.11:g.26020895G>A , CM000668.1:g.26020895G>A | GRCh37 |
| NC_000006.10:g.26128874G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003529.3:c.178G>A MANE Select | NP_003520.1:p.Glu60Lys |
| ENST00000613854.2:c.178G>A MANE Select | ENSP00000480826.2:p.Glu60Lys |
| NM_003529.2:c.178G>A | NP_003520.1:p.Glu60Lys |
| ENST00000613854.1:c.178G>A | ENSP00000480826.1:p.Glu60Lys |