Linked Data
ClinVar Variation Id:
283215
ClinVar RCV Id:
RCV000321351
RCV001081085
RCV001168925
RCV001168167
RCV001580089
RCV002401981
RCV004535294
dbSNP Id:
rs147623367
ExAC:
9:35060421 G / A
gnomAD v2:
9-35060421-G-A
gnomAD v3:
9-35060424-G-A
gnomAD v4:
9-35060424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35060424G>A , CM000671.2:g.35060424G>A | GRCh38 |
| NC_000009.11:g.35060421G>A , CM000671.1:g.35060421G>A | GRCh37 |
| NC_000009.10:g.35050421G>A | NCBI36 |
| NG_007887.1:g.17319C>T , LRG_657:g.17319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.1584C>T MANE Select | ENSP00000351777.6:p.Ala528= | |
| ENST00000417448.2:c.1449C>T | ENSP00000399456.2:p.Ala483= | |
| ENST00000448530.6:c.1449C>T | ENSP00000392088.2:p.Ala483= | |
| ENST00000480327.2:n.1997C>T | ||
| ENST00000676836.2:n.2327C>T | ||
| ENST00000677257.1:c.1578C>T | ENSP00000504354.1:p.Ala526= | |
| ENST00000678018.1:c.*1555C>T | ENSP00000503811.1:n.*1555C>T | |
| ENST00000678465.1:c.*596C>T | ENSP00000504259.1:n.*596C>T | |
| ENST00000678650.1:c.1449C>T | ENSP00000503426.1:p.Ala483= | |
| ENST00000679204.2:c.*225C>T | ENSP00000503131.2:n.*225C>T | |
| ENST00000679599.1:n.2129C>T | ||
| ENST00000679647.1:c.1584C>T | ENSP00000506216.1:p.Ala528= | |
| ENST00000679800.1:n.1983C>T | ||
| ENST00000679862.1:c.1449C>T | ENSP00000504990.1:p.Ala483= | |
| ENST00000679902.1:c.1584C>T | ENSP00000506338.1:p.Ala528= | |
| ENST00000680916.1:c.1584C>T | ENSP00000505769.1:p.Ala528= | |
| ENST00000681335.1:c.1584C>T | ENSP00000505230.1:p.Ala528= | |
| ENST00000681690.1:n.1856C>T | ||
| ENST00000358901.10:c.1584C>T | ENSP00000351777.6:p.Ala528= | |
| ENST00000480327.1:n.719C>T | ||
| ENST00000493886.5:n.1858C>T | ||
| NM_007126.3:c.1584C>T , LRG_657t1:c.1584C>T | NP_009057.1:p.Ala528= | |
| NM_001354927.1:c.1449C>T | NP_001341856.1:p.Ala483= | |
| NM_001354928.1:c.1449C>T | NP_001341857.1:p.Ala483= | |
| NM_007126.4:c.1584C>T | NP_009057.1:p.Ala528= | |
| NM_007126.5:c.1584C>T MANE Select | NP_009057.1:p.Ala528= | |
| NM_001354927.2:c.1449C>T | NP_001341856.1:p.Ala483= | |
| NM_001354928.2:c.1449C>T | NP_001341857.1:p.Ala483= |