Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740596C>G , CM000685.2:g.153740596C>G | GRCh38 |
| NC_000023.10:g.153006050C>G , CM000685.1:g.153006050C>G | GRCh37 |
| NC_000023.9:g.152659244C>G | NCBI36 |
| NG_009022.2:g.20729C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1657C>G MANE Select | ENSP00000218104.3:p.Leu553Val | |
| ENST00000218104.5:c.1657C>G | ENSP00000218104.3:p.Leu553Val | |
| ENST00000443684.2:n.660C>G | ||
| NM_000033.3:c.1657C>G | NP_000024.2:p.Leu553Val | |
| XR_938507.1:n.2129C>G | ||
| XR_938507.2:n.2129C>G | ||
| NM_000033.4:c.1657C>G MANE Select | NP_000024.2:p.Leu553Val |