Linked Data
ClinVar Variation Id:
373681
dbSNP Id:
rs200220848
ExAC:
15:44865940 A / C
gnomAD v2:
15-44865940-A-C
gnomAD v3:
15-44573742-A-C
gnomAD v4:
15-44573742-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44573742A>C , CM000677.2:g.44573742A>C | GRCh38 |
| NC_000015.9:g.44865940A>C , CM000677.1:g.44865940A>C | GRCh37 |
| NC_000015.8:g.42653232A>C | NCBI36 |
| NG_008885.1:g.94937T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5867-3084T>G | ENSP00000453246.2:n.5867-3084T>G | |
| ENST00000561391.2:n.2238T>G | ||
| ENST00000682065.1:c.5866T>G | ENSP00000507025.1:p.Leu1956Val | |
| ENST00000682460.1:c.*2267T>G | ENSP00000508334.1:n.*2267T>G | |
| ENST00000682495.1:c.*2502T>G | ENSP00000507166.1:n.*2502T>G | |
| ENST00000682669.1:c.5809T>G | ENSP00000507782.1:p.Leu1937Val | |
| ENST00000683186.1:c.*2773T>G | ENSP00000507268.1:n.*2773T>G | |
| ENST00000683496.1:c.6006+1160T>G | ENSP00000506968.1:n.6006+1160T>G | |
| ENST00000683734.1:c.5870T>G | ENSP00000508319.1:p.Val1957Gly | |
| ENST00000683753.1:n.5056T>G | ||
| ENST00000684038.1:c.*2430T>G | ENSP00000507141.1:n.*2430T>G | |
| ENST00000684235.1:c.6010T>G | ENSP00000508295.1:p.Leu2004Val | |
| ENST00000684676.1:c.*159T>G | ENSP00000506948.1:n.*159T>G | |
| ENST00000261866.12:c.6010T>G MANE Select | ENSP00000261866.7:p.Leu2004Val | |
| ENST00000261866.11:c.6010T>G | ENSP00000261866.7:p.Leu2004Val | |
| ENST00000427534.6:c.6010T>G | ENSP00000396110.2:p.Leu2004Val | |
| ENST00000535302.6:c.5867-922T>G | ENSP00000445278.2:n.5867-922T>G | |
| ENST00000558080.1:n.375T>G | ||
| ENST00000558319.5:c.6010T>G | ENSP00000453599.1:p.Leu2004Val | |
| ENST00000559511.5:c.715-3084T>G | ||
| ENST00000559822.1:c.553T>G | ||
| ENST00000559933.1:n.79T>G | ||
| NM_001160227.1:c.5867-922T>G | NP_001153699.1:n.5867-922T>G | |
| NM_025137.3:c.6010T>G | NP_079413.3:p.Leu2004Val | |
| XM_005254695.3:c.5752T>G | XP_005254752.1:p.Leu1918Val | |
| XM_006720700.1:c.5866T>G | XP_006720763.1:p.Leu1956Val | |
| XM_017022634.1:c.6010T>G | XP_016878123.1:p.Leu2004Val | |
| XM_017022636.1:c.2887T>G | XP_016878125.1:p.Leu963Val | |
| NM_025137.4:c.6010T>G MANE Select | NP_079413.3:p.Leu2004Val | |
| NM_001160227.2:c.5867-922T>G | NP_001153699.1:n.5867-922T>G |