Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501217C= , CM000677.2:g.90501217C= | GRCh38 |
| NC_000015.9:g.91044449C= , CM000677.1:g.91044449C= | GRCh37 |
| NC_000015.8:g.88845453C= | NCBI36 |
| NG_052946.1:g.117977C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1109C= MANE Select | ENSP00000268182.5:n.*1109C= | |
| ENST00000268182.9:c.*1109C= | ENSP00000268182.5:n.*1109C= | |
| ENST00000558957.1:n.2141C= | ||
| ENST00000561086.1:n.1850C= | ||
| NM_003870.3:c.*1109C= | NP_003861.1:n.*1109C= | |
| XR_001751409.2:n.6212C= | ||
| NM_003870.4:c.*1109C= MANE Select | NP_003861.1:n.*1109C= |