Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058106C>G , CM000663.2:g.55058106C>G | GRCh38 |
| NC_000001.10:g.55523779C>G , CM000663.1:g.55523779C>G | GRCh37 |
| NC_000001.9:g.55296367C>G | NCBI36 |
| NG_009061.1:g.23560C>G , LRG_275:g.23560C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1251C>G | ENSP00000501161.2:p.His417Gln | |
| ENST00000710286.1:c.1608C>G | ENSP00000518176.1:p.His536Gln | |
| ENST00000673903.1:c.876C>G | ENSP00000501257.1:p.His292Gln | |
| ENST00000302118.5:c.1251C>G MANE Select | ENSP00000303208.5:p.His417Gln | |
| ENST00000490692.1:n.1975C>G | ||
| NM_174936.3:c.1251C>G , LRG_275t1:c.1251C>G | NP_777596.2:p.His417Gln | |
| NR_110451.1:n.910C>G | ||
| XM_011541193.1:c.372C>G | XP_011539495.1:p.His124Gln | |
| NM_174936.4:c.1251C>G MANE Select | NP_777596.2:p.His417Gln | |
| NR_110451.2:n.910C>G |