Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307242C>A , CM000673.2:g.121307242C>A | GRCh38 |
| NC_000011.9:g.121177951C>A , CM000673.1:g.121177951C>A | GRCh37 |
| NC_000011.8:g.120683161C>A | NCBI36 |
| NG_009446.1:g.19564C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006918.5:c.630C>A MANE Select | NP_008849.2:p.Asp210Glu |
| ENST00000264027.9:c.630C>A MANE Select | ENSP00000264027.4:p.Asp210Glu |
| NM_001024956.2:c.630C>A | NP_001020127.1:p.Asp210Glu |
| NM_001024956.3:c.630C>A | NP_001020127.1:p.Asp210Glu |
| NM_006918.4:c.630C>A | NP_008849.2:p.Asp210Glu |
| ENST00000264027.8:c.630C>A | ENSP00000264027.4:p.Asp210Glu |
| ENST00000392789.2:c.630C>A | ENSP00000376539.2:p.Asp210Glu |
| ENST00000527183.1:n.923C>A | |
| ENST00000528991.1:n.323C>A | |
| ENST00000534230.5:c.630C>A | ENSP00000432550.1:p.Asp210Glu |