Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133537858C>G , CM000672.2:g.133537858C>G | GRCh38 |
| NG_008383.1:g.15496C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000773.4:c.1263C>G MANE Select | NP_000764.1:p.Phe421Leu |
| ENST00000252945.8:c.1263C>G MANE Select | ENSP00000252945.3:p.Phe421Leu |
| NM_000773.3:c.1263C>G | NP_000764.1:p.Phe421Leu |
| ENST00000252945.7:c.1263C>G | ENSP00000252945.3:p.Phe421Leu |
| ENST00000368520.1:n.1324C>G | |
| ENST00000418356.1:c.852C>G | ENSP00000397299.1:p.Phe284Leu |
| ENST00000421586.5:c.1002C>G | ENSP00000412754.1:p.Phe334Leu |
| ENST00000463117.6:c.1263C>G | ENSP00000440689.1:p.Phe421Leu |
| ENST00000469258.1:n.359C>G | |
| ENST00000541080.5:c.679C>G |