Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965489A>G , CM000663.2:g.11965489A>G | GRCh38 |
| NC_000001.10:g.12025546A>G , CM000663.1:g.12025546A>G | GRCh37 |
| NC_000001.9:g.11948133A>G | NCBI36 |
| NG_008159.1:g.35801A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1480A>G MANE Select | ENSP00000196061.4:p.Met494Val | |
| ENST00000196061.4:c.1480A>G | ENSP00000196061.4:p.Met494Val | |
| ENST00000470133.1:n.94A>G | ||
| ENST00000491536.5:n.108A>G | ||
| NM_000302.3:c.1480A>G | NP_000293.2:p.Met494Val | |
| NM_001316320.1:c.1621A>G | NP_001303249.1:p.Met541Val | |
| XM_011541594.1:c.1561A>G | XP_011539896.1:p.Met521Val | |
| XM_024447707.1:c.814A>G | XP_024303475.1:p.Met272Val | |
| NM_000302.4:c.1480A>G MANE Select | NP_000293.2:p.Met494Val | |
| NM_001316320.2:c.1621A>G | NP_001303249.1:p.Met541Val |