Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985896C>A , CM000678.2:g.1985896C>A | GRCh38 |
| NC_000016.9:g.2035897C>A , CM000678.1:g.2035897C>A | GRCh37 |
| NC_000016.8:g.1975898C>A | NCBI36 |
| NG_016288.1:g.6748C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.261C>A | ENSP00000455885.1:p.Thr87= | |
| ENST00000248114.7:c.486C>A MANE Select | ENSP00000248114.6:p.Thr162= | |
| ENST00000248114.6:c.486C>A | ENSP00000248114.6:p.Thr162= | |
| ENST00000565658.1:n.643C>A | ||
| ENST00000567719.1:c.261C>A | ENSP00000455885.1:p.Thr87= | |
| ENST00000569451.1:c.289C>A | ENSP00000456432.1:p.Pro97Thr | |
| NM_005262.2:c.486C>A | NP_005253.3:p.Thr162= | |
| NM_005262.3:c.486C>A MANE Select | NP_005253.3:p.Thr162= |