Linked Data
ClinVar Variation Id:
347959
dbSNP Id:
rs143015234
ExAC:
4:159627902 A / G
gnomAD v2:
4-159627902-A-G
gnomAD v3:
4-158706750-A-G
gnomAD v4:
4-158706750-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158706750A>G , CM000666.2:g.158706750A>G | GRCh38 |
| NC_000004.11:g.159627902A>G , CM000666.1:g.159627902A>G | GRCh37 |
| NC_000004.10:g.159847352A>G | NCBI36 |
| NG_007078.2:g.39409A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.3126A>G | ||
| ENST00000682178.1:n.2622A>G | ||
| ENST00000682345.1:c.*1290A>G | ENSP00000508122.1:n.*1290A>G | |
| ENST00000682452.1:n.1921A>G | ||
| ENST00000682456.1:c.1449A>G | ENSP00000508240.1:p.Glu483= | |
| ENST00000682566.1:n.2373A>G | ||
| ENST00000682613.1:n.1902A>G | ||
| ENST00000682734.1:c.417A>G | ENSP00000507860.1:p.Glu139= | |
| ENST00000682820.1:n.1627A>G | ||
| ENST00000683004.1:c.*1283A>G | ENSP00000506936.1:n.*1283A>G | |
| ENST00000683079.1:c.*1015A>G | ENSP00000507296.1:n.*1015A>G | |
| ENST00000683081.1:c.*1427A>G | ENSP00000507722.1:n.*1427A>G | |
| ENST00000683181.1:n.869A>G | ||
| ENST00000683209.1:n.3916A>G | ||
| ENST00000683305.1:c.1407A>G | ENSP00000508043.1:p.Glu469= | |
| ENST00000683448.1:c.*510A>G | ENSP00000506931.1:n.*510A>G | |
| ENST00000683478.1:c.*941A>G | ENSP00000507793.1:n.*941A>G | |
| ENST00000683483.1:c.1446A>G | ENSP00000507719.1:p.Glu482= | |
| ENST00000683622.1:n.1304A>G | ||
| ENST00000683751.1:c.1095A>G | ENSP00000506944.1:p.Glu365= | |
| ENST00000684036.1:c.1407A>G | ENSP00000507276.1:p.Glu469= | |
| ENST00000684129.1:c.417A>G | ENSP00000507174.1:p.Glu139= | |
| ENST00000684209.1:n.1965A>G | ||
| ENST00000684296.1:c.*510A>G | ENSP00000507740.1:n.*510A>G | |
| ENST00000684505.1:c.1539A>G | ENSP00000508237.1:p.Glu513= | |
| ENST00000684552.1:c.*3009A>G | ENSP00000506899.1:n.*3009A>G | |
| ENST00000684611.1:n.3318A>G | ||
| ENST00000684622.1:c.1590A>G | ENSP00000507546.1:p.Glu530= | |
| ENST00000684627.1:c.1407A>G | ENSP00000507471.1:p.Glu469= | |
| ENST00000684641.1:c.1305A>G | ENSP00000507642.1:p.Glu435= | |
| ENST00000684675.1:c.*437A>G | ENSP00000506934.1:n.*437A>G | |
| ENST00000684749.1:n.1659A>G | ||
| ENST00000511912.6:c.1590A>G MANE Select | ENSP00000426638.1:p.Glu530= | |
| ENST00000307738.5:c.1449A>G | ENSP00000303552.5:p.Glu483= | |
| ENST00000506422.1:n.560A>G | ||
| ENST00000511912.5:c.1590A>G | ENSP00000426638.1:p.Glu530= | |
| NM_001281737.1:c.1449A>G | NP_001268666.1:p.Glu483= | |
| NM_001281738.1:c.1407A>G | NP_001268667.1:p.Glu469= | |
| NM_004453.3:c.1590A>G | NP_004444.2:p.Glu530= | |
| XM_024453935.1:c.1407A>G | XP_024309703.1:p.Glu469= | |
| NM_004453.4:c.1590A>G MANE Select | NP_004444.2:p.Glu530= | |
| NM_001281737.2:c.1449A>G | NP_001268666.1:p.Glu483= |