Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965509C>G , CM000663.2:g.11965509C>G | GRCh38 |
| NC_000001.10:g.12025566C>G , CM000663.1:g.12025566C>G | GRCh37 |
| NC_000001.9:g.11948153C>G | NCBI36 |
| NG_008159.1:g.35821C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1500C>G MANE Select | ENSP00000196061.4:p.His500Gln | |
| ENST00000196061.4:c.1500C>G | ENSP00000196061.4:p.His500Gln | |
| ENST00000470133.1:n.114C>G | ||
| ENST00000491536.5:n.128C>G | ||
| NM_000302.3:c.1500C>G | NP_000293.2:p.His500Gln | |
| NM_001316320.1:c.1641C>G | NP_001303249.1:p.His547Gln | |
| XM_011541594.1:c.1581C>G | XP_011539896.1:p.His527Gln | |
| XM_024447707.1:c.834C>G | XP_024303475.1:p.His278Gln | |
| NM_000302.4:c.1500C>G MANE Select | NP_000293.2:p.His500Gln | |
| NM_001316320.2:c.1641C>G | NP_001303249.1:p.His547Gln |