Linked Data
ClinVar Variation Id:
316074
dbSNP Id:
rs747227352
ExAC:
15:44856750 G / A
gnomAD v2:
15-44856750-G-A
gnomAD v3:
15-44564552-G-A
gnomAD v4:
15-44564552-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44564552G>A , CM000677.2:g.44564552G>A | GRCh38 |
| NC_000015.9:g.44856750G>A , CM000677.1:g.44856750G>A | GRCh37 |
| NC_000015.8:g.42644042G>A | NCBI36 |
| NG_008885.1:g.104127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.837C>T | ENSP00000453314.2:p.Ser279= | |
| ENST00000559511.6:c.6669C>T | ENSP00000453246.2:p.Ser2223= | |
| ENST00000682065.1:c.7002C>T | ENSP00000507025.1:p.Ser2334= | |
| ENST00000682460.1:c.*3403C>T | ENSP00000508334.1:n.*3403C>T | |
| ENST00000682495.1:c.*3638C>T | ENSP00000507166.1:n.*3638C>T | |
| ENST00000682669.1:c.6945C>T | ENSP00000507782.1:p.Ser2315= | |
| ENST00000683186.1:c.*3909C>T | ENSP00000507268.1:n.*3909C>T | |
| ENST00000683496.1:c.*788C>T | ENSP00000506968.1:n.*788C>T | |
| ENST00000683734.1:c.*1096C>T | ENSP00000508319.1:n.*1096C>T | |
| ENST00000683753.1:n.6192C>T | ||
| ENST00000684038.1:c.*3566C>T | ENSP00000507141.1:n.*3566C>T | |
| ENST00000684235.1:c.7146C>T | ENSP00000508295.1:p.Ser2382= | |
| ENST00000261866.12:c.7146C>T MANE Select | ENSP00000261866.7:p.Ser2382= | |
| ENST00000261866.11:c.7146C>T | ENSP00000261866.7:p.Ser2382= | |
| ENST00000427534.6:c.6755-1251C>T | ENSP00000396110.2:n.6755-1251C>T | |
| ENST00000535302.6:c.6807C>T | ENSP00000445278.2:p.Ser2269= | |
| ENST00000559511.5:c.1517C>T | ||
| NM_001160227.1:c.6807C>T | NP_001153699.1:p.Ser2269= | |
| NM_025137.3:c.7146C>T | NP_079413.3:p.Ser2382= | |
| XM_005254695.3:c.6888C>T | XP_005254752.1:p.Ser2296= | |
| XM_006720700.1:c.7002C>T | XP_006720763.1:p.Ser2334= | |
| XM_017022634.1:c.7038C>T | XP_016878123.1:p.Ser2346= | |
| XM_017022636.1:c.4023C>T | XP_016878125.1:p.Ser1341= | |
| NM_025137.4:c.7146C>T MANE Select | NP_079413.3:p.Ser2382= | |
| NM_001160227.2:c.6807C>T | NP_001153699.1:p.Ser2269= |