Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501219C= , CM000677.2:g.90501219C= | GRCh38 |
| NC_000015.9:g.91044451C= , CM000677.1:g.91044451C= | GRCh37 |
| NC_000015.8:g.88845455C= | NCBI36 |
| NG_052946.1:g.117979C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1111C= MANE Select | ENSP00000268182.5:n.*1111C= | |
| ENST00000268182.9:c.*1111C= | ENSP00000268182.5:n.*1111C= | |
| ENST00000558957.1:n.2143C= | ||
| ENST00000561086.1:n.1852C= | ||
| NM_003870.3:c.*1111C= | NP_003861.1:n.*1111C= | |
| XR_001751409.2:n.6214C= | ||
| NM_003870.4:c.*1111C= MANE Select | NP_003861.1:n.*1111C= |