Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34461361C>A , CM000673.2:g.34461361C>A | GRCh38 |
| NC_000011.9:g.34482908C>A , CM000673.1:g.34482908C>A | GRCh37 |
| NC_000011.8:g.34439484C>A | NCBI36 |
| NG_013339.1:g.27437C>A | |
| NG_013339.2:g.27437C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001752.4:c.1167C>A MANE Select | NP_001743.1:p.Asp389Glu |
| ENST00000241052.5:c.1167C>A MANE Select | ENSP00000241052.4:p.Asp389Glu |
| NM_001752.3:c.1167C>A | NP_001743.1:p.Asp389Glu |
| ENST00000241052.4:c.1167C>A | ENSP00000241052.4:p.Asp389Glu |
| ENST00000525707.1:n.159C>A | |
| ENST00000530343.1:n.629C>A | |
| ENST00000650153.1:c.1153C>A |