Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501190A= , CM000677.2:g.90501190A= | GRCh38 |
| NC_000015.9:g.91044422A= , CM000677.1:g.91044422A= | GRCh37 |
| NC_000015.8:g.88845426A= | NCBI36 |
| NG_052946.1:g.117950A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1082A= MANE Select | ENSP00000268182.5:n.*1082A= | |
| ENST00000268182.9:c.*1082A= | ENSP00000268182.5:n.*1082A= | |
| ENST00000558957.1:n.2114A= | ||
| ENST00000561086.1:n.1823A= | ||
| NM_003870.3:c.*1082A= | NP_003861.1:n.*1082A= | |
| XR_001751409.2:n.6185A= | ||
| NM_003870.4:c.*1082A= MANE Select | NP_003861.1:n.*1082A= |