Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014062C>A , CM000663.2:g.1014062C>A | GRCh38 |
| NC_000001.10:g.949442C>A , CM000663.1:g.949442C>A | GRCh37 |
| NC_000001.9:g.939305C>A | NCBI36 |
| NG_033033.1:g.5596C>A | |
| NG_033033.2:g.17925C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.58C>A | ENSP00000485643.1:p.Leu20Met | |
| ENST00000649529.1:c.82C>A MANE Select | ENSP00000496832.1:p.Leu28Met | |
| ENST00000379389.4:c.82C>A | ENSP00000368699.4:p.Leu28Met | |
| ENST00000624652.1:c.58C>A | ENSP00000485313.1:p.Leu20Met | |
| ENST00000624697.3:c.58C>A | ENSP00000485643.1:p.Leu20Met | |
| NM_005101.3:c.82C>A | NP_005092.1:p.Leu28Met | |
| NM_005101.4:c.82C>A MANE Select | NP_005092.1:p.Leu28Met |