Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725951C>G , CM000685.2:g.153725951C>G | GRCh38 |
| NC_000023.10:g.152991406C>G , CM000685.1:g.152991406C>G | GRCh37 |
| NC_000023.9:g.152644600C>G | NCBI36 |
| NG_009022.2:g.6084C>G | |
| NG_023231.1:g.3796G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.685C>G MANE Select | NP_000024.2:p.Leu229Val |
| ENST00000218104.6:c.685C>G MANE Select | ENSP00000218104.3:p.Leu229Val |
| NM_000033.3:c.685C>G | NP_000024.2:p.Leu229Val |
| ENST00000218104.5:c.685C>G | ENSP00000218104.3:p.Leu229Val |
| ENST00000370129.4:c.130C>G | ENSP00000359147.3:p.Leu44Val |
| XR_938507.1:n.1101C>G | |
| XR_938507.2:n.1101C>G |