Linked Data
ClinVar Variation Id:
235362
dbSNP Id:
rs141818132
ExAC:
15:44858499 G / C
gnomAD v2:
15-44858499-G-C
gnomAD v3:
15-44566301-G-C
gnomAD v4:
15-44566301-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44566301G>C , CM000677.2:g.44566301G>C | GRCh38 |
| NC_000015.9:g.44858499G>C , CM000677.1:g.44858499G>C | GRCh37 |
| NC_000015.8:g.42645791G>C | NCBI36 |
| NG_008885.1:g.102378C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.450C>G | ENSP00000453314.2:p.Asp150Glu | |
| ENST00000559511.6:c.6282C>G | ENSP00000453246.2:p.Asp2094Glu | |
| ENST00000682065.1:c.6615C>G | ENSP00000507025.1:p.Asp2205Glu | |
| ENST00000682460.1:c.*3016C>G | ENSP00000508334.1:n.*3016C>G | |
| ENST00000682495.1:c.*3251C>G | ENSP00000507166.1:n.*3251C>G | |
| ENST00000682669.1:c.6558C>G | ENSP00000507782.1:p.Asp2186Glu | |
| ENST00000683186.1:c.*3522C>G | ENSP00000507268.1:n.*3522C>G | |
| ENST00000683496.1:c.*401C>G | ENSP00000506968.1:n.*401C>G | |
| ENST00000683734.1:c.*709C>G | ENSP00000508319.1:n.*709C>G | |
| ENST00000683753.1:n.5805C>G | ||
| ENST00000684038.1:c.*3179C>G | ENSP00000507141.1:n.*3179C>G | |
| ENST00000684235.1:c.6759C>G | ENSP00000508295.1:p.Asp2253Glu | |
| ENST00000261866.12:c.6759C>G MANE Select | ENSP00000261866.7:p.Asp2253Glu | |
| ENST00000261866.11:c.6759C>G | ENSP00000261866.7:p.Asp2253Glu | |
| ENST00000427534.6:c.6754+1123C>G | ENSP00000396110.2:n.6754+1123C>G | |
| ENST00000535302.6:c.6420C>G | ENSP00000445278.2:p.Asp2140Glu | |
| ENST00000558138.1:c.450C>G | ENSP00000453314.1:p.Asp150Glu | |
| ENST00000559347.1:n.588C>G | ||
| ENST00000559511.5:c.1130C>G | ||
| NM_001160227.1:c.6420C>G | NP_001153699.1:p.Asp2140Glu | |
| NM_025137.3:c.6759C>G | NP_079413.3:p.Asp2253Glu | |
| XM_005254695.3:c.6501C>G | XP_005254752.1:p.Asp2167Glu | |
| XM_006720700.1:c.6615C>G | XP_006720763.1:p.Asp2205Glu | |
| XM_017022634.1:c.6651C>G | XP_016878123.1:p.Asp2217Glu | |
| XM_017022636.1:c.3636C>G | XP_016878125.1:p.Asp1212Glu | |
| NM_025137.4:c.6759C>G MANE Select | NP_079413.3:p.Asp2253Glu | |
| NM_001160227.2:c.6420C>G | NP_001153699.1:p.Asp2140Glu |