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