Linked Data
ClinVar Variation Id:
2788589
ClinVar RCV Id:
RCV003600675
dbSNP Id:
rs1235239403
gnomAD v2:
15-44876601-T-C
gnomAD v4:
15-44584403-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584403T>C , CM000677.2:g.44584403T>C | GRCh38 |
| NC_000015.9:g.44876601T>C , CM000677.1:g.44876601T>C | GRCh37 |
| NC_000015.8:g.42663893T>C | NCBI36 |
| NG_008885.1:g.84276A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5277A>G | ENSP00000453246.2:p.Ala1759= | |
| ENST00000561391.2:n.1505A>G | ||
| ENST00000682065.1:c.5133A>G | ENSP00000507025.1:p.Ala1711= | |
| ENST00000682460.1:c.*1534A>G | ENSP00000508334.1:n.*1534A>G | |
| ENST00000682495.1:c.*1769A>G | ENSP00000507166.1:n.*1769A>G | |
| ENST00000682669.1:c.5076A>G | ENSP00000507782.1:p.Ala1692= | |
| ENST00000683186.1:c.*2040A>G | ENSP00000507268.1:n.*2040A>G | |
| ENST00000683496.1:c.5277A>G | ENSP00000506968.1:p.Ala1759= | |
| ENST00000683734.1:c.5277A>G | ENSP00000508319.1:p.Ala1759= | |
| ENST00000683753.1:n.4323A>G | ||
| ENST00000684038.1:c.*1697A>G | ENSP00000507141.1:n.*1697A>G | |
| ENST00000684235.1:c.5277A>G | ENSP00000508295.1:p.Ala1759= | |
| ENST00000684676.1:c.5277A>G | ENSP00000506948.1:p.Ala1759= | |
| ENST00000261866.12:c.5277A>G MANE Select | ENSP00000261866.7:p.Ala1759= | |
| ENST00000261866.11:c.5277A>G | ENSP00000261866.7:p.Ala1759= | |
| ENST00000427534.6:c.5277A>G | ENSP00000396110.2:p.Ala1759= | |
| ENST00000535302.6:c.5277A>G | ENSP00000445278.2:p.Ala1759= | |
| ENST00000558319.5:c.5277A>G | ENSP00000453599.1:p.Ala1759= | |
| ENST00000558790.5:n.714A>G | ||
| ENST00000559511.5:c.125A>G | ||
| ENST00000559822.1:c.49A>G | ||
| NM_001160227.1:c.5277A>G | NP_001153699.1:p.Ala1759= | |
| NM_025137.3:c.5277A>G | NP_079413.3:p.Ala1759= | |
| XM_005254695.3:c.5019A>G | XP_005254752.1:p.Ala1673= | |
| XM_006720700.1:c.5133A>G | XP_006720763.1:p.Ala1711= | |
| XM_017022634.1:c.5277A>G | XP_016878123.1:p.Ala1759= | |
| XM_017022636.1:c.2154A>G | XP_016878125.1:p.Ala718= | |
| XR_931917.2:n.5331A>G | ||
| NM_025137.4:c.5277A>G MANE Select | NP_079413.3:p.Ala1759= | |
| NM_001160227.2:c.5277A>G | NP_001153699.1:p.Ala1759= |