Linked Data
ClinVar Variation Id:
470689
dbSNP Id:
rs1186811814
gnomAD v2:
5-16474926-G-C
gnomAD v3:
5-16474817-G-C
gnomAD v4:
5-16474817-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16474817G>C , CM000667.2:g.16474817G>C | GRCh38 |
| NC_000005.9:g.16474926G>C , CM000667.1:g.16474926G>C | GRCh37 |
| NC_000005.8:g.16527926G>C | NCBI36 |
| NG_016644.2:g.147193C>G , LRG_363:g.147193C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509977.2:n.1066C>G | ||
| ENST00000510362.6:c.893C>G | ENSP00000425089.2:p.Thr298Arg | |
| ENST00000682142.1:c.1115C>G | ENSP00000506804.1:p.Thr372Arg | |
| ENST00000682229.1:c.1574C>G | ENSP00000507342.1:p.Thr525Arg | |
| ENST00000682564.1:c.1415C>G | ENSP00000508099.1:p.Thr472Arg | |
| ENST00000682628.1:c.893C>G | ENSP00000507536.1:p.Thr298Arg | |
| ENST00000682982.1:n.2192C>G | ||
| ENST00000683045.1:n.5962C>G | ||
| ENST00000683130.1:c.*664C>G | ENSP00000507709.1:n.*664C>G | |
| ENST00000683169.1:n.1917C>G | ||
| ENST00000683414.1:c.893C>G | ENSP00000508335.1:p.Thr298Arg | |
| ENST00000683527.1:c.*717C>G | ENSP00000507253.1:n.*717C>G | |
| ENST00000683539.1:c.893C>G | ENSP00000507466.1:p.Thr298Arg | |
| ENST00000684456.1:c.350C>G | ENSP00000508060.1:p.Thr117Arg | |
| ENST00000684521.1:c.1280C>G | ENSP00000507521.1:p.Thr427Arg | |
| ENST00000684695.1:n.3688C>G | ||
| ENST00000306320.10:c.1418C>G MANE Select | ENSP00000304642.9:p.Thr473Arg | |
| ENST00000306320.9:c.1418C>G | ENSP00000304642.9:p.Thr473Arg | |
| ENST00000399793.6:c.995C>G | ENSP00000382691.2:p.Thr332Arg | |
| ENST00000510362.5:c.577C>G | ||
| NM_001034850.2:c.1418C>G , LRG_363t1:c.1418C>G | NP_001030022.1:p.Thr473Arg | |
| NM_019000.4:c.995C>G | NP_061873.2:p.Thr332Arg | |
| XM_011514053.1:c.1538C>G | XP_011512355.1:p.Thr513Arg | |
| XM_011514054.1:c.1115C>G | XP_011512356.1:p.Thr372Arg | |
| XM_011514055.1:c.1019C>G | XP_011512357.1:p.Thr340Arg | |
| XM_011514053.3:c.1538C>G | XP_011512355.1:p.Thr513Arg | |
| XM_011514054.2:c.1115C>G | XP_011512356.1:p.Thr372Arg | |
| XM_011514055.3:c.1019C>G | XP_011512357.1:p.Thr340Arg | |
| XM_024446117.1:c.893C>G | XP_024301885.1:p.Thr298Arg | |
| XM_024446118.1:c.893C>G | XP_024301886.1:p.Thr298Arg | |
| NM_001034850.3:c.1418C>G MANE Select | NP_001030022.1:p.Thr473Arg | |
| NM_019000.5:c.995C>G | NP_061873.2:p.Thr332Arg |