Linked Data
ClinVar Variation Id:
219558
dbSNP Id:
rs779161014
ExAC:
15:44877896 C / T
gnomAD v2:
15-44877896-C-T
gnomAD v3:
15-44585698-C-T
gnomAD v4:
15-44585698-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44585698C>T , CM000677.2:g.44585698C>T | GRCh38 |
| NC_000015.9:g.44877896C>T , CM000677.1:g.44877896C>T | GRCh37 |
| NC_000015.8:g.42665188C>T | NCBI36 |
| NG_008885.1:g.82981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5059G>A | ENSP00000453246.2:p.Ala1687Thr | |
| ENST00000561391.2:n.1287G>A | ||
| ENST00000682065.1:c.5059G>A | ENSP00000507025.1:p.Ala1687Thr | |
| ENST00000682460.1:c.*1316G>A | ENSP00000508334.1:n.*1316G>A | |
| ENST00000682495.1:c.*1551G>A | ENSP00000507166.1:n.*1551G>A | |
| ENST00000682669.1:c.4858G>A | ENSP00000507782.1:p.Ala1620Thr | |
| ENST00000683186.1:c.*1822G>A | ENSP00000507268.1:n.*1822G>A | |
| ENST00000683496.1:c.5059G>A | ENSP00000506968.1:p.Ala1687Thr | |
| ENST00000683734.1:c.5059G>A | ENSP00000508319.1:p.Ala1687Thr | |
| ENST00000683753.1:n.4105G>A | ||
| ENST00000684038.1:c.*1479G>A | ENSP00000507141.1:n.*1479G>A | |
| ENST00000684235.1:c.5059G>A | ENSP00000508295.1:p.Ala1687Thr | |
| ENST00000684676.1:c.5059G>A | ENSP00000506948.1:p.Ala1687Thr | |
| ENST00000261866.12:c.5059G>A MANE Select | ENSP00000261866.7:p.Ala1687Thr | |
| ENST00000261866.11:c.5059G>A | ENSP00000261866.7:p.Ala1687Thr | |
| ENST00000427534.6:c.5059G>A | ENSP00000396110.2:p.Ala1687Thr | |
| ENST00000535302.6:c.5059G>A | ENSP00000445278.2:p.Ala1687Thr | |
| ENST00000558253.5:n.833G>A | ||
| ENST00000558319.5:c.5059G>A | ENSP00000453599.1:p.Ala1687Thr | |
| ENST00000558790.5:n.496G>A | ||
| NM_001160227.1:c.5059G>A | NP_001153699.1:p.Ala1687Thr | |
| NM_025137.3:c.5059G>A | NP_079413.3:p.Ala1687Thr | |
| XM_005254695.3:c.4801G>A | XP_005254752.1:p.Ala1601Thr | |
| XM_006720700.1:c.5059G>A | XP_006720763.1:p.Ala1687Thr | |
| XM_017022634.1:c.5059G>A | XP_016878123.1:p.Ala1687Thr | |
| XM_017022636.1:c.1936G>A | XP_016878125.1:p.Ala646Thr | |
| XR_931917.2:n.5113G>A | ||
| NM_025137.4:c.5059G>A MANE Select | NP_079413.3:p.Ala1687Thr | |
| NM_001160227.2:c.5059G>A | NP_001153699.1:p.Ala1687Thr |