Linked Data
ClinVar Variation Id:
36715
ClinVar RCV Id:
RCV000030394
RCV000127710
RCV000224203
RCV000303729
RCV000358641
RCV001084268
RCV002490423
RCV003398575
dbSNP Id:
rs4151030
ExAC:
11:36595760 C / A
gnomAD v2:
11-36595760-C-A
gnomAD v3:
11-36574210-C-A
gnomAD v4:
11-36574210-C-A
ERepo:
CA214206/MONDO:0000572/123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36574210C>A , CM000673.2:g.36574210C>A | GRCh38 |
| NC_000011.9:g.36595760C>A , CM000673.1:g.36595760C>A | GRCh37 |
| NC_000011.8:g.36552336C>A | NCBI36 |
| NG_007528.1:g.11198C>A , LRG_98:g.11198C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.906C>A | ENSP00000513411.1:p.Asp302Glu | |
| ENST00000697714.1:c.906C>A | ENSP00000513412.1:p.Asp302Glu | |
| ENST00000697715.1:c.906C>A | ENSP00000513413.1:p.Asp302Glu | |
| ENST00000299440.6:c.906C>A MANE Select | ENSP00000299440.5:p.Asp302Glu | |
| ENST00000299440.5:c.906C>A | ENSP00000299440.5:p.Asp302Glu | |
| ENST00000534663.1:c.906C>A | ENSP00000434610.1:p.Asp302Glu | |
| NM_000448.2:c.906C>A , LRG_98t1:c.906C>A | NP_000439.1:p.Asp302Glu | |
| XM_005253041.3:c.906C>A | XP_005253098.1:p.Asp302Glu | |
| XM_011520250.1:c.906C>A | XP_011518552.1:p.Asp302Glu | |
| XM_011520251.1:c.906C>A | XP_011518553.1:p.Asp302Glu | |
| XM_005253041.4:c.906C>A | XP_005253098.1:p.Asp302Glu | |
| XM_011520250.2:c.906C>A | XP_011518552.1:p.Asp302Glu | |
| NM_000448.3:c.906C>A MANE Select | NP_000439.2:p.Asp302Glu | |
| NM_001377277.1:c.906C>A | NP_001364206.1:p.Asp302Glu | |
| NM_001377278.1:c.906C>A | NP_001364207.1:p.Asp302Glu | |
| NM_001377279.1:c.906C>A | NP_001364208.1:p.Asp302Glu | |
| NM_001377280.1:c.906C>A | NP_001364209.1:p.Asp302Glu |