Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329623T>A , CM000677.2:g.73329623T>A | GRCh38 |
| NC_000015.9:g.73621964T>A , CM000677.1:g.73621964T>A | GRCh37 |
| NC_000015.8:g.71409017T>A | NCBI36 |
| NG_009063.1:g.44642A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1540A>T MANE Select | ENSP00000261917.3:p.Thr514Ser | |
| ENST00000261917.3:c.1540A>T | ENSP00000261917.3:p.Thr514Ser | |
| NM_005477.2:c.1540A>T | NP_005468.1:p.Thr514Ser | |
| XM_011521148.1:c.322A>T | XP_011519450.1:p.Thr108Ser | |
| XM_011521148.2:c.322A>T | XP_011519450.1:p.Thr108Ser | |
| NM_005477.3:c.1540A>T MANE Select | NP_005468.1:p.Thr514Ser |