Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058106C= , CM000663.2:g.55058106C= | GRCh38 |
| NC_000001.10:g.55523779C= , CM000663.1:g.55523779C= | GRCh37 |
| NC_000001.9:g.55296367C= | NCBI36 |
| NG_009061.1:g.23560C= , LRG_275:g.23560C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1251C= | ENSP00000501161.2:p.His417= | |
| ENST00000710286.1:c.1608C= | ENSP00000518176.1:p.His536= | |
| ENST00000673903.1:c.876C= | ENSP00000501257.1:p.His292= | |
| ENST00000302118.5:c.1251C= MANE Select | ENSP00000303208.5:p.His417= | |
| ENST00000490692.1:n.1975C= | ||
| NM_174936.3:c.1251C= , LRG_275t1:c.1251C= | NP_777596.2:p.His417= | |
| NR_110451.1:n.910C= | ||
| XM_011541193.1:c.372C= | XP_011539495.1:p.His124= | |
| NM_174936.4:c.1251C= MANE Select | NP_777596.2:p.His417= | |
| NR_110451.2:n.910C= |