Linked Data
ClinVar Variation Id:
1458327
ClinVar RCV Id:
RCV001949477
dbSNP Id:
rs1287370710
gnomAD v4:
15-44584282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584282G>A , CM000677.2:g.44584282G>A | GRCh38 |
| NC_000015.9:g.44876480G>A , CM000677.1:g.44876480G>A | GRCh37 |
| NC_000015.8:g.42663772G>A | NCBI36 |
| NG_008885.1:g.84397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5398C>T | ENSP00000453246.2:p.Gln1800Ter | |
| ENST00000561391.2:n.1626C>T | ||
| ENST00000682065.1:c.5254C>T | ENSP00000507025.1:p.Gln1752Ter | |
| ENST00000682460.1:c.*1655C>T | ENSP00000508334.1:n.*1655C>T | |
| ENST00000682495.1:c.*1890C>T | ENSP00000507166.1:n.*1890C>T | |
| ENST00000682669.1:c.5197C>T | ENSP00000507782.1:p.Gln1733Ter | |
| ENST00000683186.1:c.*2161C>T | ENSP00000507268.1:n.*2161C>T | |
| ENST00000683496.1:c.5398C>T | ENSP00000506968.1:p.Gln1800Ter | |
| ENST00000683734.1:c.5398C>T | ENSP00000508319.1:p.Gln1800Ter | |
| ENST00000683753.1:n.4444C>T | ||
| ENST00000684038.1:c.*1818C>T | ENSP00000507141.1:n.*1818C>T | |
| ENST00000684235.1:c.5398C>T | ENSP00000508295.1:p.Gln1800Ter | |
| ENST00000684676.1:c.5398C>T | ENSP00000506948.1:p.Gln1800Ter | |
| ENST00000261866.12:c.5398C>T MANE Select | ENSP00000261866.7:p.Gln1800Ter | |
| ENST00000261866.11:c.5398C>T | ENSP00000261866.7:p.Gln1800Ter | |
| ENST00000427534.6:c.5398C>T | ENSP00000396110.2:p.Gln1800Ter | |
| ENST00000535302.6:c.5398C>T | ENSP00000445278.2:p.Gln1800Ter | |
| ENST00000558319.5:c.5398C>T | ENSP00000453599.1:p.Gln1800Ter | |
| ENST00000558790.5:n.835C>T | ||
| ENST00000559511.5:c.246C>T | ||
| ENST00000559822.1:c.170C>T | ||
| NM_001160227.1:c.5398C>T | NP_001153699.1:p.Gln1800Ter | |
| NM_025137.3:c.5398C>T | NP_079413.3:p.Gln1800Ter | |
| XM_005254695.3:c.5140C>T | XP_005254752.1:p.Gln1714Ter | |
| XM_006720700.1:c.5254C>T | XP_006720763.1:p.Gln1752Ter | |
| XM_017022634.1:c.5398C>T | XP_016878123.1:p.Gln1800Ter | |
| XM_017022636.1:c.2275C>T | XP_016878125.1:p.Gln759Ter | |
| XR_931917.2:n.5452C>T | ||
| NM_025137.4:c.5398C>T MANE Select | NP_079413.3:p.Gln1800Ter | |
| NM_001160227.2:c.5398C>T | NP_001153699.1:p.Gln1800Ter |