Linked Data
ClinVar Variation Id:
534904
dbSNP Id:
rs1393655599
gnomAD v2:
15-44876751-T-C
gnomAD v4:
15-44584553-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584553T>C , CM000677.2:g.44584553T>C | GRCh38 |
| NC_000015.9:g.44876751T>C , CM000677.1:g.44876751T>C | GRCh37 |
| NC_000015.8:g.42664043T>C | NCBI36 |
| NG_008885.1:g.84126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5127A>G | ENSP00000453246.2:p.Thr1709= | |
| ENST00000561391.2:n.1355A>G | ||
| ENST00000682065.1:c.5122-139A>G | ENSP00000507025.1:n.5122-139A>G | |
| ENST00000682460.1:c.*1384A>G | ENSP00000508334.1:n.*1384A>G | |
| ENST00000682495.1:c.*1619A>G | ENSP00000507166.1:n.*1619A>G | |
| ENST00000682669.1:c.4926A>G | ENSP00000507782.1:p.Thr1642= | |
| ENST00000683186.1:c.*1890A>G | ENSP00000507268.1:n.*1890A>G | |
| ENST00000683496.1:c.5127A>G | ENSP00000506968.1:p.Thr1709= | |
| ENST00000683734.1:c.5127A>G | ENSP00000508319.1:p.Thr1709= | |
| ENST00000683753.1:n.4173A>G | ||
| ENST00000684038.1:c.*1547A>G | ENSP00000507141.1:n.*1547A>G | |
| ENST00000684235.1:c.5127A>G | ENSP00000508295.1:p.Thr1709= | |
| ENST00000684676.1:c.5127A>G | ENSP00000506948.1:p.Thr1709= | |
| ENST00000261866.12:c.5127A>G MANE Select | ENSP00000261866.7:p.Thr1709= | |
| ENST00000261866.11:c.5127A>G | ENSP00000261866.7:p.Thr1709= | |
| ENST00000427534.6:c.5127A>G | ENSP00000396110.2:p.Thr1709= | |
| ENST00000535302.6:c.5127A>G | ENSP00000445278.2:p.Thr1709= | |
| ENST00000558319.5:c.5127A>G | ENSP00000453599.1:p.Thr1709= | |
| ENST00000558790.5:n.564A>G | ||
| NM_001160227.1:c.5127A>G | NP_001153699.1:p.Thr1709= | |
| NM_025137.3:c.5127A>G | NP_079413.3:p.Thr1709= | |
| XM_005254695.3:c.4869A>G | XP_005254752.1:p.Thr1623= | |
| XM_006720700.1:c.5122-139A>G | XP_006720763.1:n.5122-139A>G | |
| XM_017022634.1:c.5127A>G | XP_016878123.1:p.Thr1709= | |
| XM_017022636.1:c.2004A>G | XP_016878125.1:p.Thr668= | |
| XR_931917.2:n.5181A>G | ||
| NM_025137.4:c.5127A>G MANE Select | NP_079413.3:p.Thr1709= | |
| NM_001160227.2:c.5127A>G | NP_001153699.1:p.Thr1709= |