Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987510C>G , CM000683.2:g.45987510C>G | GRCh38 |
| NC_000021.8:g.47407424C>G , CM000683.1:g.47407424C>G | GRCh37 |
| NC_000021.7:g.46231852C>G | NCBI36 |
| NG_008674.1:g.10762C>G , LRG_475:g.10762C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.750C>G MANE Select | NP_001839.2:p.Phe250Leu |
| ENST00000361866.8:c.750C>G MANE Select | ENSP00000355180.3:p.Phe250Leu |
| NM_001848.2:c.750C>G , LRG_475t1:c.750C>G | NP_001839.2:p.Phe250Leu |
| ENST00000361866.7:c.750C>G | ENSP00000355180.3:p.Phe250Leu |
| ENST00000492851.1:n.402C>G | |
| ENST00000612273.1:c.750C>G | ENSP00000483630.1:p.Phe250Leu |