Linked Data
ClinVar Variation Id:
2920540
ClinVar RCV Id:
RCV003736328
dbSNP Id:
rs369537927
ExAC:
3:101484239 C / A
gnomAD v2:
3-101484239-C-A
gnomAD v3:
3-101765395-C-A
gnomAD v4:
3-101765395-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101765395C>A , CM000665.2:g.101765395C>A | GRCh38 |
| NC_000003.11:g.101484239C>A , CM000665.1:g.101484239C>A | GRCh37 |
| NC_000003.10:g.102966929C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.*2077C>A | ENSP00000419009.1:n.*2077C>A | |
| ENST00000704365.1:c.2520C>A | ENSP00000515873.1:p.Asp840Glu | |
| ENST00000704366.1:c.2340C>A | ENSP00000515874.1:p.Asp780Glu | |
| ENST00000704367.1:c.2163C>A | ENSP00000515875.1:p.Asp721Glu | |
| ENST00000704368.1:n.2935C>A | ||
| ENST00000704369.1:c.1956C>A | ENSP00000515876.1:p.Asp652Glu | |
| ENST00000704370.1:c.2436C>A | ENSP00000515877.1:p.Asp812Glu | |
| ENST00000704372.1:n.2796C>A | ||
| ENST00000704444.1:c.2226C>A | ENSP00000515896.1:p.Asp742Glu | |
| ENST00000704445.1:c.2094C>A | ENSP00000515897.1:p.Asp698Glu | |
| ENST00000704446.1:c.1049-1054C>A | ENSP00000515898.1:n.1049-1054C>A | |
| ENST00000341893.8:c.2442C>A MANE Select | ENSP00000342510.3:p.Asp814Glu | |
| ENST00000341893.7:c.2442C>A | ENSP00000342510.3:p.Asp814Glu | |
| ENST00000494050.5:c.2265C>A | ENSP00000418185.1:p.Asp755Glu | |
| NM_001303401.1:c.2265C>A | NP_001290330.1:p.Asp755Glu | |
| NM_024548.3:c.2442C>A | NP_078824.2:p.Asp814Glu | |
| XM_006713743.2:c.2340C>A | XP_006713806.1:p.Asp780Glu | |
| XM_011513125.1:c.2226C>A | XP_011511427.1:p.Asp742Glu | |
| XM_011513126.1:c.2226C>A | XP_011511428.1:p.Asp742Glu | |
| XM_011513127.1:c.2094C>A | XP_011511429.1:p.Asp698Glu | |
| XM_006713743.4:c.2340C>A | XP_006713806.1:p.Asp780Glu | |
| XM_017007178.2:c.2163C>A | XP_016862667.1:p.Asp721Glu | |
| NM_024548.4:c.2442C>A MANE Select | NP_078824.2:p.Asp814Glu | |
| NM_001303401.2:c.2265C>A | NP_001290330.1:p.Asp755Glu |