Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40838377A>G , CM000663.2:g.40838377A>G | GRCh38 |
| NC_000001.10:g.41304049A>G , CM000663.1:g.41304049A>G | GRCh37 |
| NC_000001.9:g.41076636A>G | NCBI36 |
| NG_008139.1:g.59366A>G | |
| NG_008139.2:g.59366A>G | |
| NG_008139.3:g.59591A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.1942A>G MANE Select | ENSP00000262916.6:p.Thr648Ala | |
| ENST00000347132.9:c.1942A>G | ENSP00000262916.6:p.Thr648Ala | |
| ENST00000443478.3:c.1523A>G | ||
| ENST00000506017.1:n.1261A>G | ||
| ENST00000509682.6:c.1780A>G | ENSP00000423756.2:p.Thr594Ala | |
| NM_004700.3:c.1942A>G | NP_004691.2:p.Thr648Ala | |
| NM_172163.2:c.1780A>G | NP_751895.1:p.Thr594Ala | |
| XM_017002792.1:c.925A>G | XP_016858281.1:p.Thr309Ala | |
| NM_004700.4:c.1942A>G MANE Select | NP_004691.2:p.Thr648Ala | |
| NM_172163.3:c.1780A>G | NP_751895.1:p.Thr594Ala |