Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169510336C>A , CM000664.2:g.169510336C>A | GRCh38 |
| NC_000002.11:g.170366846C>A , CM000664.1:g.170366846C>A | GRCh37 |
| NC_000002.10:g.170075092C>A | NCBI36 |
| NG_042051.1:g.5635C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006063.3:c.558C>A MANE Select | NP_006054.2:p.Asp186Glu |
| ENST00000284669.2:c.558C>A MANE Select | ENSP00000284669.1:p.Asp186Glu |
| NM_006063.2:c.558C>A | NP_006054.2:p.Asp186Glu |
| ENST00000284669.1:c.558C>A | ENSP00000284669.1:p.Asp186Glu |
| ENST00000513963.1:c.925-4238C>A | ENSP00000424363.1:n.925-4238C>A |