Linked Data
ClinVar Variation Id:
406519
ClinVar RCV Id:
RCV000456956
RCV000658710
RCV001252107
RCV002467808
RCV002339138
RCV002467809
RCV003483617
RCV003488606
dbSNP Id:
rs145643238
ExAC:
15:44877834 C / A
gnomAD v2:
15-44877834-C-A
gnomAD v3:
15-44585636-C-A
gnomAD v4:
15-44585636-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44585636C>A , CM000677.2:g.44585636C>A | GRCh38 |
| NC_000015.9:g.44877834C>A , CM000677.1:g.44877834C>A | GRCh37 |
| NC_000015.8:g.42665126C>A | NCBI36 |
| NG_008885.1:g.83043G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5121G>T | ENSP00000453246.2:p.Glu1707Asp | |
| ENST00000561391.2:n.1349G>T | ||
| ENST00000682065.1:c.5121G>T | ENSP00000507025.1:p.Glu1707Asp | |
| ENST00000682460.1:c.*1378G>T | ENSP00000508334.1:n.*1378G>T | |
| ENST00000682495.1:c.*1613G>T | ENSP00000507166.1:n.*1613G>T | |
| ENST00000682669.1:c.4920G>T | ENSP00000507782.1:p.Glu1640Asp | |
| ENST00000683186.1:c.*1884G>T | ENSP00000507268.1:n.*1884G>T | |
| ENST00000683496.1:c.5121G>T | ENSP00000506968.1:p.Glu1707Asp | |
| ENST00000683734.1:c.5121G>T | ENSP00000508319.1:p.Glu1707Asp | |
| ENST00000683753.1:n.4167G>T | ||
| ENST00000684038.1:c.*1541G>T | ENSP00000507141.1:n.*1541G>T | |
| ENST00000684235.1:c.5121G>T | ENSP00000508295.1:p.Glu1707Asp | |
| ENST00000684676.1:c.5121G>T | ENSP00000506948.1:p.Glu1707Asp | |
| ENST00000261866.12:c.5121G>T MANE Select | ENSP00000261866.7:p.Glu1707Asp | |
| ENST00000261866.11:c.5121G>T | ENSP00000261866.7:p.Glu1707Asp | |
| ENST00000427534.6:c.5121G>T | ENSP00000396110.2:p.Glu1707Asp | |
| ENST00000535302.6:c.5121G>T | ENSP00000445278.2:p.Glu1707Asp | |
| ENST00000558319.5:c.5121G>T | ENSP00000453599.1:p.Glu1707Asp | |
| ENST00000558790.5:n.558G>T | ||
| NM_001160227.1:c.5121G>T | NP_001153699.1:p.Glu1707Asp | |
| NM_025137.3:c.5121G>T | NP_079413.3:p.Glu1707Asp | |
| XM_005254695.3:c.4863G>T | XP_005254752.1:p.Glu1621Asp | |
| XM_006720700.1:c.5121G>T | XP_006720763.1:p.Glu1707Asp | |
| XM_017022634.1:c.5121G>T | XP_016878123.1:p.Glu1707Asp | |
| XM_017022636.1:c.1998G>T | XP_016878125.1:p.Glu666Asp | |
| XR_931917.2:n.5175G>T | ||
| NM_025137.4:c.5121G>T MANE Select | NP_079413.3:p.Glu1707Asp | |
| NM_001160227.2:c.5121G>T | NP_001153699.1:p.Glu1707Asp |