Linked Data
ClinVar Variation Id:
290999
ClinVar RCV Id:
RCV000391563
dbSNP Id:
rs749703265
gnomAD v2:
16-68679612-C-A
gnomAD v3:
16-68645709-C-A
gnomAD v4:
16-68645709-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68645709C>A , CM000678.2:g.68645709C>A | GRCh38 |
| NC_000016.9:g.68679612C>A , CM000678.1:g.68679612C>A | GRCh37 |
| NC_000016.8:g.67237113C>A | NCBI36 |
| NG_009096.1:g.6462C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.9:c.119C>A MANE Select | ENSP00000264012.4:p.Ala40Glu | |
| ENST00000264012.8:c.119C>A | ENSP00000264012.4:p.Ala40Glu | |
| ENST00000429102.6:c.119C>A | ENSP00000398485.2:p.Ala40Glu | |
| ENST00000542274.5:c.45+285C>A | ENSP00000464021.1:n.45+285C>A | |
| ENST00000566808.2:c.73C>A | ||
| NM_001793.4:c.119C>A | NP_001784.2:p.Ala40Glu | |
| XM_011522800.1:c.119C>A | XP_011521102.1:p.Ala40Glu | |
| NM_001317195.1:c.119C>A | NP_001304124.1:p.Ala40Glu | |
| NM_001317196.1:c.-6+285C>A | NP_001304125.1:n.-6+285C>A | |
| NM_001793.5:c.119C>A | NP_001784.2:p.Ala40Glu | |
| XM_011522800.3:c.119C>A | XP_011521102.1:p.Ala40Glu | |
| NM_001793.6:c.119C>A MANE Select | NP_001784.2:p.Ala40Glu | |
| NM_001317195.2:c.119C>A | NP_001304124.1:p.Ala40Glu | |
| NM_001317196.2:c.-6+285C>A | NP_001304125.1:n.-6+285C>A | |
| NM_001317195.3:c.119C>A | NP_001304124.1:p.Ala40Glu |