Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365458C>G , CM000678.2:g.81365458C>G | GRCh38 |
| NC_000016.9:g.81399063C>G , CM000678.1:g.81399063C>G | GRCh37 |
| NC_000016.8:g.79956564C>G | NCBI36 |
| NG_009007.1:g.55493C>G , LRG_242:g.55493C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1190C>G | ENSP00000498114.1:n.*1190C>G | |
| ENST00000648994.2:c.1482C>G MANE Select | ENSP00000497351.1:p.Phe494Leu | |
| ENST00000650388.1:c.1016C>G | ENSP00000498081.1:n.1016C>G | |
| ENST00000567335.1:n.40C>G | ||
| ENST00000568107.2:c.1482C>G | ENSP00000476795.1:p.Phe494Leu | |
| NM_022041.3:c.1482C>G , LRG_242t1:c.1482C>G | NP_071324.1:p.Phe494Leu | |
| XM_017023734.1:c.843C>G | XP_016879223.1:p.Phe281Leu | |
| NM_001377486.1:c.843C>G | NP_001364415.1:p.Phe281Leu | |
| NM_022041.4:c.1482C>G MANE Select | NP_071324.1:p.Phe494Leu |