Linked Data
ClinVar Variation Id:
835037
dbSNP Id:
rs753980126
gnomAD v2:
15-44865770-C-G
gnomAD v3:
15-44573572-C-G
gnomAD v4:
15-44573572-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44573572C>G , CM000677.2:g.44573572C>G | GRCh38 |
| NC_000015.9:g.44865770C>G , CM000677.1:g.44865770C>G | GRCh37 |
| NC_000015.8:g.42653062C>G | NCBI36 |
| NG_008885.1:g.95107G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5867-2914G>C | ENSP00000453246.2:n.5867-2914G>C | |
| ENST00000561391.2:n.2408G>C | ||
| ENST00000682065.1:c.6036G>C | ENSP00000507025.1:p.Glu2012Asp | |
| ENST00000682460.1:c.*2437G>C | ENSP00000508334.1:n.*2437G>C | |
| ENST00000682495.1:c.*2672G>C | ENSP00000507166.1:n.*2672G>C | |
| ENST00000682669.1:c.5979G>C | ENSP00000507782.1:p.Glu1993Asp | |
| ENST00000683186.1:c.*2943G>C | ENSP00000507268.1:n.*2943G>C | |
| ENST00000683496.1:c.6006+1330G>C | ENSP00000506968.1:n.6006+1330G>C | |
| ENST00000683734.1:c.*130G>C | ENSP00000508319.1:n.*130G>C | |
| ENST00000683753.1:n.5226G>C | ||
| ENST00000684038.1:c.*2600G>C | ENSP00000507141.1:n.*2600G>C | |
| ENST00000684235.1:c.6180G>C | ENSP00000508295.1:p.Glu2060Asp | |
| ENST00000684676.1:c.*329G>C | ENSP00000506948.1:n.*329G>C | |
| ENST00000261866.12:c.6180G>C MANE Select | ENSP00000261866.7:p.Glu2060Asp | |
| ENST00000261866.11:c.6180G>C | ENSP00000261866.7:p.Glu2060Asp | |
| ENST00000427534.6:c.6180G>C | ENSP00000396110.2:p.Glu2060Asp | |
| ENST00000535302.6:c.5867-752G>C | ENSP00000445278.2:n.5867-752G>C | |
| ENST00000558080.1:n.545G>C | ||
| ENST00000558319.5:c.6180G>C | ENSP00000453599.1:p.Glu2060Asp | |
| ENST00000559511.5:c.715-2914G>C | ||
| ENST00000559933.1:n.249G>C | ||
| ENST00000561268.5:n.112G>C | ||
| NM_001160227.1:c.5867-752G>C | NP_001153699.1:n.5867-752G>C | |
| NM_025137.3:c.6180G>C | NP_079413.3:p.Glu2060Asp | |
| XM_005254695.3:c.5922G>C | XP_005254752.1:p.Glu1974Asp | |
| XM_006720700.1:c.6036G>C | XP_006720763.1:p.Glu2012Asp | |
| XM_017022634.1:c.6180G>C | XP_016878123.1:p.Glu2060Asp | |
| XM_017022636.1:c.3057G>C | XP_016878125.1:p.Glu1019Asp | |
| NM_025137.4:c.6180G>C MANE Select | NP_079413.3:p.Glu2060Asp | |
| NM_001160227.2:c.5867-752G>C | NP_001153699.1:n.5867-752G>C |