Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985882C>A , CM000678.2:g.1985882C>A | GRCh38 |
| NC_000016.9:g.2035883C>A , CM000678.1:g.2035883C>A | GRCh37 |
| NC_000016.8:g.1975884C>A | NCBI36 |
| NG_016288.1:g.6734C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.247C>A | ENSP00000455885.1:p.Pro83Thr | |
| ENST00000248114.7:c.472C>A MANE Select | ENSP00000248114.6:p.Pro158Thr | |
| ENST00000248114.6:c.472C>A | ENSP00000248114.6:p.Pro158Thr | |
| ENST00000565658.1:n.629C>A | ||
| ENST00000567719.1:c.247C>A | ENSP00000455885.1:p.Pro83Thr | |
| ENST00000569451.1:c.275C>A | ENSP00000456432.1:p.Pro92His | |
| NM_005262.2:c.472C>A | NP_005253.3:p.Pro158Thr | |
| NM_005262.3:c.472C>A MANE Select | NP_005253.3:p.Pro158Thr |