Linked Data
ClinVar Variation Id:
529453
dbSNP Id:
rs761854400
ExAC:
4:159618720 A / G
gnomAD v2:
4-159618720-A-G
gnomAD v3:
4-158697568-A-G
gnomAD v4:
4-158697568-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158697568A>G , CM000666.2:g.158697568A>G | GRCh38 |
| NC_000004.11:g.159618720A>G , CM000666.1:g.159618720A>G | GRCh37 |
| NC_000004.10:g.159838170A>G | NCBI36 |
| NG_007078.2:g.30227A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507475.6:n.614A>G | ||
| ENST00000681978.1:n.1090A>G | ||
| ENST00000682178.1:n.1873A>G | ||
| ENST00000682345.1:c.*541A>G | ENSP00000508122.1:n.*541A>G | |
| ENST00000682452.1:n.1172A>G | ||
| ENST00000682456.1:c.832-1419A>G | ENSP00000508240.1:n.832-1419A>G | |
| ENST00000682566.1:n.337A>G | ||
| ENST00000682601.1:n.1032A>G | ||
| ENST00000682613.1:n.1153A>G | ||
| ENST00000682734.1:c.-333A>G | ENSP00000507860.1:n.-333A>G | |
| ENST00000682820.1:n.878A>G | ||
| ENST00000683004.1:c.*678A>G | ENSP00000506936.1:n.*678A>G | |
| ENST00000683079.1:c.*221A>G | ENSP00000507296.1:n.*221A>G | |
| ENST00000683081.1:c.*678A>G | ENSP00000507722.1:n.*678A>G | |
| ENST00000683305.1:c.658A>G | ENSP00000508043.1:p.Ile220Val | |
| ENST00000683448.1:c.346A>G | ENSP00000506931.1:p.Ile116Val | |
| ENST00000683478.1:c.*221A>G | ENSP00000507793.1:n.*221A>G | |
| ENST00000683483.1:c.841A>G | ENSP00000507719.1:p.Ile281Val | |
| ENST00000683751.1:c.346A>G | ENSP00000506944.1:p.Ile116Val | |
| ENST00000684036.1:c.658A>G | ENSP00000507276.1:p.Ile220Val | |
| ENST00000684129.1:c.-378A>G | ENSP00000507174.1:n.-378A>G | |
| ENST00000684209.1:n.1216A>G | ||
| ENST00000684296.1:c.841A>G | ENSP00000507740.1:p.Ile281Val | |
| ENST00000684505.1:c.790A>G | ENSP00000508237.1:p.Ile264Val | |
| ENST00000684552.1:c.841A>G | ENSP00000506899.1:p.Ile281Val | |
| ENST00000684611.1:n.2569A>G | ||
| ENST00000684622.1:c.841A>G | ENSP00000507546.1:p.Ile281Val | |
| ENST00000684627.1:c.658A>G | ENSP00000507471.1:p.Ile220Val | |
| ENST00000684641.1:c.831+1925A>G | ENSP00000507642.1:n.831+1925A>G | |
| ENST00000684675.1:c.841A>G | ENSP00000506934.1:p.Ile281Val | |
| ENST00000684749.1:n.910A>G | ||
| ENST00000511912.6:c.841A>G MANE Select | ENSP00000426638.1:p.Ile281Val | |
| ENST00000307738.5:c.700A>G | ENSP00000303552.5:p.Ile234Val | |
| ENST00000506422.1:n.87-5855A>G | ||
| ENST00000507475.5:c.346A>G | ENSP00000422735.1:p.Ile116Val | |
| ENST00000511912.5:c.841A>G | ENSP00000426638.1:p.Ile281Val | |
| NM_001281737.1:c.700A>G | NP_001268666.1:p.Ile234Val | |
| NM_001281738.1:c.658A>G | NP_001268667.1:p.Ile220Val | |
| NM_004453.3:c.841A>G | NP_004444.2:p.Ile281Val | |
| XM_024453935.1:c.658A>G | XP_024309703.1:p.Ile220Val | |
| NM_004453.4:c.841A>G MANE Select | NP_004444.2:p.Ile281Val | |
| NM_001281737.2:c.700A>G | NP_001268666.1:p.Ile234Val |