Linked Data
ClinVar Variation Id:
319797
ClinVar RCV Id:
RCV000887054
dbSNP Id:
rs45564432
ExAC:
16:55725894 C / G
gnomAD v2:
16-55725894-C-G
gnomAD v3:
16-55691982-C-G
gnomAD v4:
16-55691982-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55691982C>G , CM000678.2:g.55691982C>G | GRCh38 |
| NC_000016.9:g.55725894C>G , CM000678.1:g.55725894C>G | GRCh37 |
| NC_000016.8:g.54283395C>G | NCBI36 |
| NG_016969.1:g.41353C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219833.13:c.848C>G | ENSP00000219833.8:p.Thr283Arg | |
| ENST00000568943.6:c.848C>G MANE Select | ENSP00000457473.1:p.Thr283Arg | |
| ENST00000574918.2:c.784-2028C>G | ENSP00000460214.2:n.784-2028C>G | |
| ENST00000682050.1:c.784-2028C>G | ENSP00000508367.1:n.784-2028C>G | |
| ENST00000219833.12:c.848C>G | ENSP00000219833.8:p.Thr283Arg | |
| ENST00000379906.6:c.848C>G | ENSP00000369237.2:p.Thr283Arg | |
| ENST00000414754.7:c.848C>G | ENSP00000394956.3:p.Thr283Arg | |
| ENST00000561820.5:c.848C>G | ENSP00000454439.1:p.Thr283Arg | |
| ENST00000566163.5:c.784-2028C>G | ENSP00000456210.1:n.784-2028C>G | |
| ENST00000567238.1:c.533C>G | ENSP00000457375.1:p.Thr178Arg | |
| ENST00000568529.6:c.784-2028C>G | ENSP00000456377.2:n.784-2028C>G | |
| ENST00000568943.5:c.848C>G | ENSP00000457473.1:p.Thr283Arg | |
| NM_001043.3:c.848C>G | NP_001034.1:p.Thr283Arg | |
| NM_001172501.1:c.848C>G | NP_001165972.1:p.Thr283Arg | |
| NM_001172502.1:c.533C>G | NP_001165973.1:p.Thr178Arg | |
| NM_001172504.1:c.848C>G | NP_001165975.1:p.Thr283Arg | |
| XM_006721263.2:c.848C>G | XP_006721326.1:p.Thr283Arg | |
| XM_011523295.1:c.848C>G | XP_011521597.1:p.Thr283Arg | |
| XM_011523296.1:c.784-2028C>G | XP_011521598.1:n.784-2028C>G | |
| XM_011523297.1:c.784-2028C>G | XP_011521599.1:n.784-2028C>G | |
| XM_011523298.1:c.848C>G | XP_011521600.1:p.Thr283Arg | |
| XM_011523299.1:c.125C>G | XP_011521601.1:p.Thr42Arg | |
| XM_011523300.1:c.125C>G | XP_011521602.1:p.Thr42Arg | |
| XR_933403.1:n.1465C>G | ||
| XM_011523295.2:c.848C>G | XP_011521597.1:p.Thr283Arg | |
| XM_011523296.2:c.784-2028C>G | XP_011521598.1:n.784-2028C>G | |
| XM_011523297.3:c.784-2028C>G | XP_011521599.1:n.784-2028C>G | |
| XM_011523298.2:c.848C>G | XP_011521600.1:p.Thr283Arg | |
| XM_011523299.2:c.125C>G | XP_011521601.1:p.Thr42Arg | |
| XM_011523300.2:c.125C>G | XP_011521602.1:p.Thr42Arg | |
| XR_933403.3:n.1141C>G | ||
| NM_001172501.2:c.848C>G | NP_001165972.1:p.Thr283Arg | |
| NM_001172501.3:c.848C>G MANE Select | NP_001165972.1:p.Thr283Arg |