Linked Data
ClinVar Variation Id:
137233
dbSNP Id:
rs200911913
ExAC:
4:159618701 T / G
gnomAD v2:
4-159618701-T-G
gnomAD v3:
4-158697549-T-G
gnomAD v4:
4-158697549-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158697549T>G , CM000666.2:g.158697549T>G | GRCh38 |
| NC_000004.11:g.159618701T>G , CM000666.1:g.159618701T>G | GRCh37 |
| NC_000004.10:g.159838151T>G | NCBI36 |
| NG_007078.2:g.30208T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507475.6:n.605-10T>G | ||
| ENST00000681978.1:n.1081-10T>G | ||
| ENST00000682178.1:n.1864-10T>G | ||
| ENST00000682345.1:c.*532-10T>G | ENSP00000508122.1:n.*532-10T>G | |
| ENST00000682452.1:n.1163-10T>G | ||
| ENST00000682456.1:c.832-1438T>G | ENSP00000508240.1:n.832-1438T>G | |
| ENST00000682566.1:n.328-10T>G | ||
| ENST00000682601.1:n.1023-10T>G | ||
| ENST00000682613.1:n.1144-10T>G | ||
| ENST00000682734.1:c.-342-10T>G | ENSP00000507860.1:n.-342-10T>G | |
| ENST00000682820.1:n.869-10T>G | ||
| ENST00000683004.1:c.*669-10T>G | ENSP00000506936.1:n.*669-10T>G | |
| ENST00000683079.1:c.*212-10T>G | ENSP00000507296.1:n.*212-10T>G | |
| ENST00000683081.1:c.*669-10T>G | ENSP00000507722.1:n.*669-10T>G | |
| ENST00000683305.1:c.649-10T>G | ENSP00000508043.1:n.649-10T>G | |
| ENST00000683448.1:c.337-10T>G | ENSP00000506931.1:n.337-10T>G | |
| ENST00000683478.1:c.*212-10T>G | ENSP00000507793.1:n.*212-10T>G | |
| ENST00000683483.1:c.832-10T>G | ENSP00000507719.1:n.832-10T>G | |
| ENST00000683751.1:c.337-10T>G | ENSP00000506944.1:n.337-10T>G | |
| ENST00000684036.1:c.649-10T>G | ENSP00000507276.1:n.649-10T>G | |
| ENST00000684129.1:c.-387-10T>G | ENSP00000507174.1:n.-387-10T>G | |
| ENST00000684209.1:n.1207-10T>G | ||
| ENST00000684296.1:c.832-10T>G | ENSP00000507740.1:n.832-10T>G | |
| ENST00000684505.1:c.781-10T>G | ENSP00000508237.1:n.781-10T>G | |
| ENST00000684552.1:c.832-10T>G | ENSP00000506899.1:n.832-10T>G | |
| ENST00000684611.1:n.2560-10T>G | ||
| ENST00000684622.1:c.832-10T>G | ENSP00000507546.1:n.832-10T>G | |
| ENST00000684627.1:c.649-10T>G | ENSP00000507471.1:n.649-10T>G | |
| ENST00000684641.1:c.831+1906T>G | ENSP00000507642.1:n.831+1906T>G | |
| ENST00000684675.1:c.832-10T>G | ENSP00000506934.1:n.832-10T>G | |
| ENST00000684749.1:n.901-10T>G | ||
| ENST00000511912.6:c.832-10T>G MANE Select | ENSP00000426638.1:n.832-10T>G | |
| ENST00000307738.5:c.691-10T>G | ENSP00000303552.5:n.691-10T>G | |
| ENST00000506422.1:n.87-5874T>G | ||
| ENST00000507475.5:c.337-10T>G | ENSP00000422735.1:n.337-10T>G | |
| ENST00000511912.5:c.832-10T>G | ENSP00000426638.1:n.832-10T>G | |
| NM_001281737.1:c.691-10T>G | NP_001268666.1:n.691-10T>G | |
| NM_001281738.1:c.649-10T>G | NP_001268667.1:n.649-10T>G | |
| NM_004453.3:c.832-10T>G | NP_004444.2:n.832-10T>G | |
| XM_024453935.1:c.649-10T>G | XP_024309703.1:n.649-10T>G | |
| NM_004453.4:c.832-10T>G MANE Select | NP_004444.2:n.832-10T>G | |
| NM_001281737.2:c.691-10T>G | NP_001268666.1:n.691-10T>G |