Linked Data
ClinVar Variation Id:
130366
dbSNP Id:
rs150761878
ExAC:
15:44864966 C / A
gnomAD v2:
15-44864966-C-A
gnomAD v3:
15-44572768-C-A
gnomAD v4:
15-44572768-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44572768C>A , CM000677.2:g.44572768C>A | GRCh38 |
| NC_000015.9:g.44864966C>A , CM000677.1:g.44864966C>A | GRCh37 |
| NC_000015.8:g.42652258C>A | NCBI36 |
| NG_008885.1:g.95911G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.57G>T | ENSP00000453314.2:p.Leu19= | |
| ENST00000559511.6:c.5867-2110G>T | ENSP00000453246.2:n.5867-2110G>T | |
| ENST00000682065.1:c.6114G>T | ENSP00000507025.1:p.Leu2038= | |
| ENST00000682460.1:c.*2515G>T | ENSP00000508334.1:n.*2515G>T | |
| ENST00000682495.1:c.*2750G>T | ENSP00000507166.1:n.*2750G>T | |
| ENST00000682669.1:c.6057G>T | ENSP00000507782.1:p.Leu2019= | |
| ENST00000683186.1:c.*3021G>T | ENSP00000507268.1:n.*3021G>T | |
| ENST00000683496.1:c.6007-2116G>T | ENSP00000506968.1:n.6007-2116G>T | |
| ENST00000683734.1:c.*208G>T | ENSP00000508319.1:n.*208G>T | |
| ENST00000683753.1:n.5304G>T | ||
| ENST00000684038.1:c.*2678G>T | ENSP00000507141.1:n.*2678G>T | |
| ENST00000684235.1:c.6258G>T | ENSP00000508295.1:p.Leu2086= | |
| ENST00000261866.12:c.6258G>T MANE Select | ENSP00000261866.7:p.Leu2086= | |
| ENST00000261866.11:c.6258G>T | ENSP00000261866.7:p.Leu2086= | |
| ENST00000427534.6:c.6258G>T | ENSP00000396110.2:p.Leu2086= | |
| ENST00000535302.6:c.5919G>T | ENSP00000445278.2:p.Leu1973= | |
| ENST00000558138.1:c.57G>T | ENSP00000453314.1:p.Leu19= | |
| ENST00000559511.5:c.715-2110G>T | ||
| ENST00000559933.1:n.327G>T | ||
| ENST00000561268.5:n.190G>T | ||
| NM_001160227.1:c.5919G>T | NP_001153699.1:p.Leu1973= | |
| NM_025137.3:c.6258G>T | NP_079413.3:p.Leu2086= | |
| XM_005254695.3:c.6000G>T | XP_005254752.1:p.Leu2000= | |
| XM_006720700.1:c.6114G>T | XP_006720763.1:p.Leu2038= | |
| XM_017022634.1:c.6258G>T | XP_016878123.1:p.Leu2086= | |
| XM_017022636.1:c.3135G>T | XP_016878125.1:p.Leu1045= | |
| NM_025137.4:c.6258G>T MANE Select | NP_079413.3:p.Leu2086= | |
| NM_001160227.2:c.5919G>T | NP_001153699.1:p.Leu1973= |