Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17282897C= , CM000663.2:g.17282897C= | GRCh38 |
| NC_000001.10:g.17609392C= , CM000663.1:g.17609392C= | GRCh37 |
| NC_000001.9:g.17481979C= | NCBI36 |
| NG_052788.1:g.38819C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016233.2:c.1813C= MANE Select | NP_057317.2:p.Pro605= |
| ENST00000375460.3:c.1813C= MANE Select | ENSP00000364609.3:p.Pro605= |
| XM_006710684.2:c.1699C= | XP_006710747.1:p.Pro567= |
| XM_011541571.1:c.1699C= | XP_011539873.1:p.Pro567= |
| XM_011541571.2:c.1699C= | XP_011539873.1:p.Pro567= |
| XM_017001463.1:c.1276C= | XP_016856952.1:p.Pro426= |