Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357883C>G , CM000678.2:g.81357883C>G | GRCh38 |
| NC_000016.9:g.81391488C>G , CM000678.1:g.81391488C>G | GRCh37 |
| NC_000016.8:g.79948989C>G | NCBI36 |
| NG_009007.1:g.47918C>G , LRG_242:g.47918C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*633C>G | ENSP00000498114.1:n.*633C>G | |
| ENST00000648994.2:c.925C>G MANE Select | ENSP00000497351.1:p.Leu309Val | |
| ENST00000650388.1:c.459C>G | ENSP00000498081.1:n.459C>G | |
| ENST00000568107.2:c.925C>G | ENSP00000476795.1:p.Leu309Val | |
| NM_022041.3:c.925C>G , LRG_242t1:c.925C>G | NP_071324.1:p.Leu309Val | |
| XM_017023734.1:c.286C>G | XP_016879223.1:p.Leu96Val | |
| NM_001377486.1:c.286C>G | NP_001364415.1:p.Leu96Val | |
| NM_022041.4:c.925C>G MANE Select | NP_071324.1:p.Leu309Val |