Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238848439A>C , CM000664.2:g.238848439A>C | GRCh38 |
| NC_000002.11:g.239757080A>C , CM000664.1:g.239757080A>C | GRCh37 |
| NG_032754.1:g.5408A>C | |
| NG_032754.2:g.5408A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710607.1:c.224A>C | ENSP00000518373.1:p.Glu75Ala | |
| ENST00000612363.2:c.224A>C MANE Select | ENSP00000482581.1:p.Glu75Ala | |
| ENST00000448943.2:c.224A>C | ENSP00000405176.2:p.Glu75Ala | |
| ENST00000612363.1:c.224A>C | ENSP00000482581.1:p.Glu75Ala | |
| NM_001271893.3:c.224A>C | NP_001258822.1:p.Glu75Ala | |
| NM_057179.2:c.224A>C | NP_476527.1:p.Glu75Ala | |
| XM_006712242.2:c.224A>C | XP_006712305.1:p.Glu75Ala | |
| NM_001271893.4:c.224A>C MANE Select | NP_001258822.1:p.Glu75Ala | |
| NM_057179.3:c.224A>C | NP_476527.1:p.Glu75Ala |