Linked Data
ClinVar Variation Id:
381390
dbSNP Id:
rs146882697
ExAC:
4:159627830 G / A
gnomAD v2:
4-159627830-G-A
gnomAD v3:
4-158706678-G-A
gnomAD v4:
4-158706678-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158706678G>A , CM000666.2:g.158706678G>A | GRCh38 |
| NC_000004.11:g.159627830G>A , CM000666.1:g.159627830G>A | GRCh37 |
| NC_000004.10:g.159847280G>A | NCBI36 |
| NG_007078.2:g.39337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.3054G>A | ||
| ENST00000682178.1:n.2550G>A | ||
| ENST00000682345.1:c.*1218G>A | ENSP00000508122.1:n.*1218G>A | |
| ENST00000682452.1:n.1849G>A | ||
| ENST00000682456.1:c.1377G>A | ENSP00000508240.1:p.Glu459= | |
| ENST00000682566.1:n.2301G>A | ||
| ENST00000682613.1:n.1830G>A | ||
| ENST00000682734.1:c.345G>A | ENSP00000507860.1:p.Glu115= | |
| ENST00000682820.1:n.1555G>A | ||
| ENST00000683004.1:c.*1211G>A | ENSP00000506936.1:n.*1211G>A | |
| ENST00000683079.1:c.*943G>A | ENSP00000507296.1:n.*943G>A | |
| ENST00000683081.1:c.*1355G>A | ENSP00000507722.1:n.*1355G>A | |
| ENST00000683181.1:n.797G>A | ||
| ENST00000683209.1:n.3844G>A | ||
| ENST00000683305.1:c.1335G>A | ENSP00000508043.1:p.Glu445= | |
| ENST00000683448.1:c.*438G>A | ENSP00000506931.1:n.*438G>A | |
| ENST00000683478.1:c.*869G>A | ENSP00000507793.1:n.*869G>A | |
| ENST00000683483.1:c.1374G>A | ENSP00000507719.1:p.Glu458= | |
| ENST00000683622.1:n.1232G>A | ||
| ENST00000683751.1:c.1023G>A | ENSP00000506944.1:p.Glu341= | |
| ENST00000684036.1:c.1335G>A | ENSP00000507276.1:p.Glu445= | |
| ENST00000684129.1:c.345G>A | ENSP00000507174.1:p.Glu115= | |
| ENST00000684209.1:n.1893G>A | ||
| ENST00000684296.1:c.*438G>A | ENSP00000507740.1:n.*438G>A | |
| ENST00000684505.1:c.1467G>A | ENSP00000508237.1:p.Glu489= | |
| ENST00000684552.1:c.*2937G>A | ENSP00000506899.1:n.*2937G>A | |
| ENST00000684611.1:n.3246G>A | ||
| ENST00000684622.1:c.1518G>A | ENSP00000507546.1:p.Glu506= | |
| ENST00000684627.1:c.1335G>A | ENSP00000507471.1:p.Glu445= | |
| ENST00000684641.1:c.1233G>A | ENSP00000507642.1:p.Glu411= | |
| ENST00000684675.1:c.*365G>A | ENSP00000506934.1:n.*365G>A | |
| ENST00000684749.1:n.1587G>A | ||
| ENST00000511912.6:c.1518G>A MANE Select | ENSP00000426638.1:p.Glu506= | |
| ENST00000307738.5:c.1377G>A | ENSP00000303552.5:p.Glu459= | |
| ENST00000506422.1:n.488G>A | ||
| ENST00000511912.5:c.1518G>A | ENSP00000426638.1:p.Glu506= | |
| NM_001281737.1:c.1377G>A | NP_001268666.1:p.Glu459= | |
| NM_001281738.1:c.1335G>A | NP_001268667.1:p.Glu445= | |
| NM_004453.3:c.1518G>A | NP_004444.2:p.Glu506= | |
| XM_024453935.1:c.1335G>A | XP_024309703.1:p.Glu445= | |
| NM_004453.4:c.1518G>A MANE Select | NP_004444.2:p.Glu506= | |
| NM_001281737.2:c.1377G>A | NP_001268666.1:p.Glu459= |