Linked Data
ClinVar Variation Id:
804713
dbSNP Id:
rs1180658535
gnomAD v2:
1-16378232-A-G
gnomAD v4:
1-16051737-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16051737A>G , CM000663.2:g.16051737A>G | GRCh38 |
| NC_000001.10:g.16378232A>G , CM000663.1:g.16378232A>G | GRCh37 |
| NC_000001.9:g.16250819A>G | NCBI36 |
| NG_013079.1:g.12986A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1325A>G | ENSP00000507062.1:p.Glu442Gly | |
| ENST00000682793.1:c.1325A>G | ENSP00000506910.1:p.Glu442Gly | |
| ENST00000682838.1:c.*1067A>G | ENSP00000507652.1:n.*1067A>G | |
| ENST00000683578.1:c.1325A>G | ENSP00000507430.1:p.Glu442Gly | |
| ENST00000683606.1:n.940A>G | ||
| ENST00000683661.1:n.2860A>G | ||
| ENST00000684324.1:c.1325A>G | ENSP00000507937.1:p.Glu442Gly | |
| ENST00000684545.1:c.1325A>G | ENSP00000506733.1:p.Glu442Gly | |
| ENST00000684624.1:n.702A>G | ||
| ENST00000684714.1:c.1325A>G | ENSP00000506861.1:p.Glu442Gly | |
| ENST00000684731.1:n.786A>G | ||
| ENST00000375679.9:c.1325A>G MANE Select | ENSP00000364831.5:p.Glu442Gly | |
| ENST00000375667.7:c.818A>G | ENSP00000364819.3:p.Glu273Gly | |
| ENST00000375679.8:c.1325A>G | ENSP00000364831.4:p.Glu442Gly | |
| ENST00000619181.4:c.944A>G | ENSP00000483866.1:p.Glu315Gly | |
| NM_000085.4:c.1325A>G | NP_000076.2:p.Glu442Gly | |
| NM_001165945.2:c.818A>G | NP_001159417.2:p.Glu273Gly | |
| XM_011540619.1:c.1166A>G | XP_011538921.1:p.Glu389Gly | |
| XM_011540620.1:c.1325A>G | XP_011538922.1:p.Glu442Gly | |
| XM_011540621.1:c.674A>G | XP_011538923.1:p.Glu225Gly | |
| NM_000085.5:c.1325A>G MANE Select | NP_000076.2:p.Glu442Gly |