Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35575800G>C , CM000679.2:g.35575800G>C | GRCh38 |
| NC_000017.10:g.33902819G>C , CM000679.1:g.33902819G>C | GRCh37 |
| NC_000017.9:g.30926932G>C | NCBI36 |
| NG_008447.1:g.7838C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000286.3:c.1062C>G MANE Select | NP_000277.1:p.Leu354= |
| ENST00000225873.9:c.1062C>G MANE Select | ENSP00000225873.3:p.Leu354= |
| NM_000286.2:c.1062C>G | NP_000277.1:p.Leu354= |
| ENST00000225873.8:c.1062C>G | ENSP00000225873.3:p.Leu354= |
| ENST00000586663.1:c.1062C>G | ENSP00000466894.1:p.Leu354= |
| ENST00000586663.2:c.1062C>G | ENSP00000466894.2:p.Leu354= |
| ENST00000613219.4:c.1062C>G | ENSP00000482609.1:p.Leu354= |