Linked Data
dbSNP Id:
rs772425559
ExAC:
15:44876339 C / A
gnomAD v2:
15-44876339-C-A
gnomAD v4:
15-44584141-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584141C>A , CM000677.2:g.44584141C>A | GRCh38 |
| NC_000015.9:g.44876339C>A , CM000677.1:g.44876339C>A | GRCh37 |
| NC_000015.8:g.42663631C>A | NCBI36 |
| NG_008885.1:g.84538G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5539G>T | ENSP00000453246.2:p.Ala1847Ser | |
| ENST00000561391.2:n.1767G>T | ||
| ENST00000682065.1:c.5395G>T | ENSP00000507025.1:p.Ala1799Ser | |
| ENST00000682460.1:c.*1796G>T | ENSP00000508334.1:n.*1796G>T | |
| ENST00000682495.1:c.*2031G>T | ENSP00000507166.1:n.*2031G>T | |
| ENST00000682669.1:c.5338G>T | ENSP00000507782.1:p.Ala1780Ser | |
| ENST00000683186.1:c.*2302G>T | ENSP00000507268.1:n.*2302G>T | |
| ENST00000683496.1:c.5539G>T | ENSP00000506968.1:p.Ala1847Ser | |
| ENST00000683734.1:c.5539G>T | ENSP00000508319.1:p.Ala1847Ser | |
| ENST00000683753.1:n.4585G>T | ||
| ENST00000684038.1:c.*1959G>T | ENSP00000507141.1:n.*1959G>T | |
| ENST00000684235.1:c.5539G>T | ENSP00000508295.1:p.Ala1847Ser | |
| ENST00000684676.1:c.5515+24G>T | ENSP00000506948.1:n.5515+24G>T | |
| ENST00000261866.12:c.5539G>T MANE Select | ENSP00000261866.7:p.Ala1847Ser | |
| ENST00000261866.11:c.5539G>T | ENSP00000261866.7:p.Ala1847Ser | |
| ENST00000427534.6:c.5539G>T | ENSP00000396110.2:p.Ala1847Ser | |
| ENST00000535302.6:c.5539G>T | ENSP00000445278.2:p.Ala1847Ser | |
| ENST00000558319.5:c.5539G>T | ENSP00000453599.1:p.Ala1847Ser | |
| ENST00000559511.5:c.387G>T | ||
| ENST00000559822.1:c.287+24G>T | ||
| NM_001160227.1:c.5539G>T | NP_001153699.1:p.Ala1847Ser | |
| NM_025137.3:c.5539G>T | NP_079413.3:p.Ala1847Ser | |
| XM_005254695.3:c.5281G>T | XP_005254752.1:p.Ala1761Ser | |
| XM_006720700.1:c.5395G>T | XP_006720763.1:p.Ala1799Ser | |
| XM_017022634.1:c.5539G>T | XP_016878123.1:p.Ala1847Ser | |
| XM_017022636.1:c.2416G>T | XP_016878125.1:p.Ala806Ser | |
| NM_025137.4:c.5539G>T MANE Select | NP_079413.3:p.Ala1847Ser | |
| NM_001160227.2:c.5539G>T | NP_001153699.1:p.Ala1847Ser |