Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69294665C>T , CM000679.2:g.69294665C>T | GRCh38 |
| NC_000017.10:g.67290806C>T , CM000679.1:g.67290806C>T | GRCh37 |
| NC_000017.9:g.64802401C>T | NCBI36 |
| NG_034199.1:g.37518G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172232.4:c.1485G>A MANE Select | NP_758424.1:p.Glu495= |
| ENST00000392676.8:c.1485G>A MANE Select | ENSP00000376443.2:p.Glu495= |
| NM_018672.4:c.1485G>A | NP_061142.2:p.Glu495= |
| NM_018672.5:c.1485G>A | NP_061142.2:p.Glu495= |
| NM_172232.3:c.1485G>A | NP_758424.1:p.Glu495= |
| ENST00000392676.7:c.1485G>A | ENSP00000376443.2:p.Glu495= |
| ENST00000586995.5:c.498G>A | ENSP00000467251.1:p.Glu166= |
| ENST00000588877.5:c.1485G>A | ENSP00000467882.1:p.Glu495= |
| ENST00000593153.5:c.1485G>A | ENSP00000467448.1:p.Glu495= |