Linked Data
ClinVar Variation Id:
1109
dbSNP Id:
rs118203963
ExAC:
15:44865850 G / A
gnomAD v2:
15-44865850-G-A
gnomAD v3:
15-44573652-G-A
gnomAD v4:
15-44573652-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44573652G>A , CM000677.2:g.44573652G>A | GRCh38 |
| NC_000015.9:g.44865850G>A , CM000677.1:g.44865850G>A | GRCh37 |
| NC_000015.8:g.42653142G>A | NCBI36 |
| NG_008885.1:g.95027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5867-2994C>T | ENSP00000453246.2:n.5867-2994C>T | |
| ENST00000561391.2:n.2328C>T | ||
| ENST00000682065.1:c.5956C>T | ENSP00000507025.1:p.Arg1986Ter | |
| ENST00000682460.1:c.*2357C>T | ENSP00000508334.1:n.*2357C>T | |
| ENST00000682495.1:c.*2592C>T | ENSP00000507166.1:n.*2592C>T | |
| ENST00000682669.1:c.5899C>T | ENSP00000507782.1:p.Arg1967Ter | |
| ENST00000683186.1:c.*2863C>T | ENSP00000507268.1:n.*2863C>T | |
| ENST00000683496.1:c.6006+1250C>T | ENSP00000506968.1:n.6006+1250C>T | |
| ENST00000683734.1:c.*50C>T | ENSP00000508319.1:n.*50C>T | |
| ENST00000683753.1:n.5146C>T | ||
| ENST00000684038.1:c.*2520C>T | ENSP00000507141.1:n.*2520C>T | |
| ENST00000684235.1:c.6100C>T | ENSP00000508295.1:p.Arg2034Ter | |
| ENST00000684676.1:c.*249C>T | ENSP00000506948.1:n.*249C>T | |
| ENST00000261866.12:c.6100C>T MANE Select | ENSP00000261866.7:p.Arg2034Ter | |
| ENST00000261866.11:c.6100C>T | ENSP00000261866.7:p.Arg2034Ter | |
| ENST00000427534.6:c.6100C>T | ENSP00000396110.2:p.Arg2034Ter | |
| ENST00000535302.6:c.5867-832C>T | ENSP00000445278.2:n.5867-832C>T | |
| ENST00000558080.1:n.465C>T | ||
| ENST00000558319.5:c.6100C>T | ENSP00000453599.1:p.Arg2034Ter | |
| ENST00000559511.5:c.715-2994C>T | ||
| ENST00000559933.1:n.169C>T | ||
| ENST00000561268.5:n.32C>T | ||
| NM_001160227.1:c.5867-832C>T | NP_001153699.1:n.5867-832C>T | |
| NM_025137.3:c.6100C>T | NP_079413.3:p.Arg2034Ter | |
| XM_005254695.3:c.5842C>T | XP_005254752.1:p.Arg1948Ter | |
| XM_006720700.1:c.5956C>T | XP_006720763.1:p.Arg1986Ter | |
| XM_017022634.1:c.6100C>T | XP_016878123.1:p.Arg2034Ter | |
| XM_017022636.1:c.2977C>T | XP_016878125.1:p.Arg993Ter | |
| NM_025137.4:c.6100C>T MANE Select | NP_079413.3:p.Arg2034Ter | |
| NM_001160227.2:c.5867-832C>T | NP_001153699.1:n.5867-832C>T |