Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912296C= , CM000674.2:g.4912296C= | GRCh38 |
| NC_000012.11:g.5021462C= , CM000674.1:g.5021462C= | GRCh37 |
| NC_000012.10:g.4891723C= | NCBI36 |
| NG_011815.1:g.7390C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.918C= MANE Select | ENSP00000371985.3:p.Ser306= | |
| ENST00000543874.3:n.105+1824C= | ||
| ENST00000639306.1:c.756C= | ENSP00000492506.1:p.Ser252= | |
| ENST00000639680.1:c.76+30C= | ||
| ENST00000382545.3:c.918C= | ENSP00000371985.3:p.Ser306= | |
| ENST00000541095.1:n.105+1824C= | ||
| ENST00000543874.2:n.96+1824C= | ||
| NM_000217.2:c.918C= | NP_000208.2:p.Ser306= | |
| NM_000217.3:c.918C= MANE Select | NP_000208.2:p.Ser306= |