Linked Data
ClinVar Variation Id:
41299
dbSNP Id:
rs312262749
ExAC:
15:44912387 C / A
gnomAD v2:
15-44912387-C-A
gnomAD v3:
15-44620189-C-A
gnomAD v4:
15-44620189-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44620189C>A , CM000677.2:g.44620189C>A | GRCh38 |
| NC_000015.9:g.44912387C>A , CM000677.1:g.44912387C>A | GRCh37 |
| NC_000015.8:g.42699679C>A | NCBI36 |
| NG_008885.1:g.48490G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.2834+1G>T | ENSP00000453246.2:n.2834+1G>T | |
| ENST00000682065.1:c.2834+1G>T | ENSP00000507025.1:n.2834+1G>T | |
| ENST00000682460.1:c.2834+1G>T | ENSP00000508334.1:n.2834+1G>T | |
| ENST00000682495.1:c.2834+1G>T | ENSP00000507166.1:n.2834+1G>T | |
| ENST00000682669.1:c.2834+1G>T | ENSP00000507782.1:n.2834+1G>T | |
| ENST00000682788.1:c.2834+1G>T | ENSP00000508089.1:n.2834+1G>T | |
| ENST00000682915.1:c.2834+1G>T | ENSP00000507493.1:n.2834+1G>T | |
| ENST00000683121.1:c.2834+1G>T | ENSP00000507557.1:n.2834+1G>T | |
| ENST00000683186.1:c.2834+1G>T | ENSP00000507268.1:n.2834+1G>T | |
| ENST00000683255.1:c.2834+1G>T | ENSP00000508340.1:n.2834+1G>T | |
| ENST00000683496.1:c.2834+1G>T | ENSP00000506968.1:n.2834+1G>T | |
| ENST00000683573.1:c.2835G>T | ENSP00000508031.1:p.Arg945Ser | |
| ENST00000683734.1:c.2834+1G>T | ENSP00000508319.1:n.2834+1G>T | |
| ENST00000683753.1:n.1958+1G>T | ||
| ENST00000684038.1:c.2576+1G>T | ENSP00000507141.1:n.2576+1G>T | |
| ENST00000684235.1:c.2834+1G>T | ENSP00000508295.1:n.2834+1G>T | |
| ENST00000684676.1:c.2834+1G>T | ENSP00000506948.1:n.2834+1G>T | |
| ENST00000261866.12:c.2834+1G>T MANE Select | ENSP00000261866.7:n.2834+1G>T | |
| ENST00000261866.11:c.2834+1G>T | ENSP00000261866.7:n.2834+1G>T | |
| ENST00000427534.6:c.2834+1G>T | ENSP00000396110.2:n.2834+1G>T | |
| ENST00000535302.6:c.2834+1G>T | ENSP00000445278.2:n.2834+1G>T | |
| ENST00000558319.5:c.2834+1G>T | ENSP00000453599.1:n.2834+1G>T | |
| ENST00000558989.1:n.1677+1G>T | ||
| ENST00000560435.1:c.117G>T | ENSP00000452629.1:p.Arg39Ser | |
| NM_001160227.1:c.2834+1G>T | NP_001153699.1:n.2834+1G>T | |
| NM_025137.3:c.2834+1G>T | NP_079413.3:n.2834+1G>T | |
| XM_005254695.3:c.2576+1G>T | XP_005254752.1:n.2576+1G>T | |
| XM_006720700.1:c.2834+1G>T | XP_006720763.1:n.2834+1G>T | |
| XM_006720701.2:c.2834+1G>T | XP_006720764.1:n.2834+1G>T | |
| XM_011522093.1:c.2834+1G>T | XP_011520395.1:n.2834+1G>T | |
| XR_931917.1:n.2865+1G>T | ||
| XM_006720701.3:c.2834+1G>T | XP_006720764.1:n.2834+1G>T | |
| XM_017022634.1:c.2834+1G>T | XP_016878123.1:n.2834+1G>T | |
| XM_017022635.2:c.2834+1G>T | XP_016878124.1:n.2834+1G>T | |
| XM_017022636.1:c.-183+1G>T | XP_016878125.1:n.-183+1G>T | |
| XR_001751402.1:n.2865+1G>T | ||
| XR_931917.2:n.2865+1G>T | ||
| NM_025137.4:c.2834+1G>T MANE Select | NP_079413.3:n.2834+1G>T | |
| NM_001160227.2:c.2834+1G>T | NP_001153699.1:n.2834+1G>T |