Linked Data
ClinVar Variation Id:
16923
dbSNP Id:
rs2834167
ExAC:
21:34640788 A / G
gnomAD v2:
21-34640788-A-G
gnomAD v3:
21-33268483-A-G
gnomAD v4:
21-33268483-A-G
PubMed:
PMID:16757563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33268483A>G , CM000683.2:g.33268483A>G | GRCh38 |
| NC_000021.8:g.34640788A>G , CM000683.1:g.34640788A>G | GRCh37 |
| NC_000021.7:g.33562658A>G | NCBI36 |
| NG_012089.1:g.7117A>G , LRG_152:g.7117A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433395.7:c.799A>G | ENSP00000388223.3:p.Lys267Glu | |
| ENST00000609556.3:c.139A>G | ENSP00000489965.2:p.Lys47Glu | |
| ENST00000637650.2:c.139A>G | ENSP00000489716.2:p.Lys47Glu | |
| ENST00000696764.1:n.192A>G | ||
| ENST00000696765.1:n.15A>G | ||
| ENST00000682009.1:c.*249A>G | ENSP00000506919.1:n.*249A>G | |
| ENST00000683116.1:c.*391A>G | ENSP00000508125.1:n.*391A>G | |
| ENST00000290200.7:c.139A>G MANE Select | ENSP00000290200.2:p.Lys47Glu | |
| ENST00000646150.1:c.*227A>G | ENSP00000496248.1:n.*227A>G | |
| ENST00000290200.6:c.139A>G | ENSP00000290200.2:p.Lys47Glu | |
| ENST00000422891.5:c.139A>G | ENSP00000414682.1:p.Lys47Glu | |
| ENST00000432231.1:c.310-8113A>G | ||
| ENST00000433395.6:c.522A>G | ||
| ENST00000493295.5:n.556A>G | ||
| ENST00000498371.1:n.202A>G | ||
| NM_000628.4:c.139A>G | NP_000619.3:p.Lys47Glu | |
| NM_000628.5:c.139A>G MANE Select | NP_000619.3:p.Lys47Glu |