Linked Data
ClinVar Variation Id:
847223
ClinVar RCV Id:
RCV001050726
dbSNP Id:
rs1483911645
gnomAD v3:
15-44584009-C-T
gnomAD v4:
15-44584009-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584009C>T , CM000677.2:g.44584009C>T | GRCh38 |
| NC_000015.9:g.44876207C>T , CM000677.1:g.44876207C>T | GRCh37 |
| NC_000015.8:g.42663499C>T | NCBI36 |
| NG_008885.1:g.84670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5671G>A | ENSP00000453246.2:p.Val1891Met | |
| ENST00000561391.2:n.1899G>A | ||
| ENST00000682065.1:c.5527G>A | ENSP00000507025.1:p.Val1843Met | |
| ENST00000682460.1:c.*1928G>A | ENSP00000508334.1:n.*1928G>A | |
| ENST00000682495.1:c.*2163G>A | ENSP00000507166.1:n.*2163G>A | |
| ENST00000682669.1:c.5470G>A | ENSP00000507782.1:p.Val1824Met | |
| ENST00000683186.1:c.*2434G>A | ENSP00000507268.1:n.*2434G>A | |
| ENST00000683496.1:c.5671G>A | ENSP00000506968.1:p.Val1891Met | |
| ENST00000683734.1:c.5671G>A | ENSP00000508319.1:p.Val1891Met | |
| ENST00000683753.1:n.4717G>A | ||
| ENST00000684038.1:c.*2091G>A | ENSP00000507141.1:n.*2091G>A | |
| ENST00000684235.1:c.5671G>A | ENSP00000508295.1:p.Val1891Met | |
| ENST00000684676.1:c.5516-74G>A | ENSP00000506948.1:n.5516-74G>A | |
| ENST00000261866.12:c.5671G>A MANE Select | ENSP00000261866.7:p.Val1891Met | |
| ENST00000261866.11:c.5671G>A | ENSP00000261866.7:p.Val1891Met | |
| ENST00000427534.6:c.5671G>A | ENSP00000396110.2:p.Val1891Met | |
| ENST00000535302.6:c.5671G>A | ENSP00000445278.2:p.Val1891Met | |
| ENST00000558319.5:c.5671G>A | ENSP00000453599.1:p.Val1891Met | |
| ENST00000559511.5:c.519G>A | ||
| ENST00000559822.1:c.288-74G>A | ||
| NM_001160227.1:c.5671G>A | NP_001153699.1:p.Val1891Met | |
| NM_025137.3:c.5671G>A | NP_079413.3:p.Val1891Met | |
| XM_005254695.3:c.5413G>A | XP_005254752.1:p.Val1805Met | |
| XM_006720700.1:c.5527G>A | XP_006720763.1:p.Val1843Met | |
| XM_017022634.1:c.5671G>A | XP_016878123.1:p.Val1891Met | |
| XM_017022636.1:c.2548G>A | XP_016878125.1:p.Val850Met | |
| NM_025137.4:c.5671G>A MANE Select | NP_079413.3:p.Val1891Met | |
| NM_001160227.2:c.5671G>A | NP_001153699.1:p.Val1891Met |