Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501204C= , CM000677.2:g.90501204C= | GRCh38 |
| NC_000015.9:g.91044436C= , CM000677.1:g.91044436C= | GRCh37 |
| NC_000015.8:g.88845440C= | NCBI36 |
| NG_052946.1:g.117964C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1096C= MANE Select | ENSP00000268182.5:n.*1096C= | |
| ENST00000268182.9:c.*1096C= | ENSP00000268182.5:n.*1096C= | |
| ENST00000558957.1:n.2128C= | ||
| ENST00000561086.1:n.1837C= | ||
| NM_003870.3:c.*1096C= | NP_003861.1:n.*1096C= | |
| XR_001751409.2:n.6199C= | ||
| NM_003870.4:c.*1096C= MANE Select | NP_003861.1:n.*1096C= |