Linked Data
ClinVar Variation Id:
137619
dbSNP Id:
rs201009485
ExAC:
5:118861666 G / C
gnomAD v2:
5-118861666-G-C
PubMed:
PMID:24553428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119525971G>C , CM000667.2:g.119525971G>C | GRCh38 |
| NC_000005.9:g.118861666G>C , CM000667.1:g.118861666G>C | GRCh37 |
| NC_000005.8:g.118889565G>C | NCBI36 |
| NG_008182.1:g.78519G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1559G>C | ENSP00000426272.2:p.Arg520Pro | |
| ENST00000518349.6:c.872G>C | ENSP00000507185.1:p.Arg291Pro | |
| ENST00000520244.6:n.3366G>C | ||
| ENST00000682445.1:c.*1509G>C | ENSP00000508061.1:n.*1509G>C | |
| ENST00000682531.1:n.3520G>C | ||
| ENST00000682626.1:c.*1134G>C | ENSP00000507857.1:n.*1134G>C | |
| ENST00000682996.1:c.1556G>C | ENSP00000507792.1:p.Arg519Pro | |
| ENST00000683265.1:n.3414G>C | ||
| ENST00000683335.1:n.3030G>C | ||
| ENST00000683371.1:c.*1758G>C | ENSP00000508376.1:n.*1758G>C | |
| ENST00000683372.1:n.3638G>C | ||
| ENST00000683390.1:n.3318G>C | ||
| ENST00000683476.1:n.470G>C | ||
| ENST00000683549.1:n.3242G>C | ||
| ENST00000683936.1:c.*3206G>C | ENSP00000507721.1:n.*3206G>C | |
| ENST00000683974.1:n.3357G>C | ||
| ENST00000683996.1:c.*838G>C | ENSP00000507060.1:n.*838G>C | |
| ENST00000684131.1:n.3160G>C | ||
| ENST00000684160.1:c.*1318G>C | ENSP00000507821.1:n.*1318G>C | |
| ENST00000684214.1:c.1628G>C | ENSP00000508071.1:p.Arg543Pro | |
| ENST00000414835.7:c.1703G>C | ENSP00000411960.3:p.Arg568Pro | |
| ENST00000510025.7:c.1628G>C MANE Select | ENSP00000424940.3:p.Arg543Pro | |
| ENST00000643250.1:c.*1500G>C | ENSP00000494737.1:n.*1500G>C | |
| ENST00000644146.1:c.*2899G>C | ENSP00000494808.1:n.*2899G>C | |
| ENST00000645099.1:c.1187G>C | ENSP00000496091.1:p.Arg396Pro | |
| ENST00000645702.1:c.*1031G>C | ENSP00000496432.1:n.*1031G>C | |
| ENST00000645832.1:c.*1513G>C | ENSP00000494316.1:n.*1513G>C | |
| ENST00000646058.1:c.1628G>C | ENSP00000493579.1:p.Arg543Pro | |
| ENST00000646355.1:c.*1634G>C | ENSP00000493801.1:n.*1634G>C | |
| ENST00000646554.1:c.*1606G>C | ENSP00000494542.1:n.*1606G>C | |
| ENST00000647335.1:c.*1595G>C | ENSP00000495180.1:n.*1595G>C | |
| ENST00000647342.1:c.*1559G>C | ENSP00000494992.1:n.*1559G>C | |
| ENST00000256216.10:c.1628G>C | ENSP00000256216.6:p.Arg543Pro | |
| ENST00000414835.6:c.1208G>C | ENSP00000411960.2:p.Arg403Pro | |
| ENST00000442060.7:c.*190G>C | ENSP00000390208.3:n.*190G>C | |
| ENST00000504811.5:c.1703G>C | ENSP00000420914.1:p.Arg568Pro | |
| ENST00000507353.1:n.236G>C | ||
| ENST00000509514.5:c.842G>C | ENSP00000426272.1:p.Arg281Pro | |
| ENST00000509951.5:n.83G>C | ||
| ENST00000510025.5:c.1556G>C | ENSP00000424940.1:p.Arg519Pro | |
| ENST00000513628.5:c.1217G>C | ENSP00000425993.1:p.Arg406Pro | |
| ENST00000515235.6:n.3381G>C | ||
| ENST00000515320.5:c.1574G>C | ENSP00000424613.1:p.Arg525Pro | |
| ENST00000518349.5:n.762G>C | ||
| ENST00000520244.5:n.411G>C | ||
| ENST00000522415.5:n.295G>C | ||
| NM_000414.3:c.1628G>C | NP_000405.1:p.Arg543Pro | |
| NM_001199291.2:c.1703G>C | NP_001186220.1:p.Arg568Pro | |
| NM_001199292.1:c.1574G>C | NP_001186221.1:p.Arg525Pro | |
| NM_001292027.1:c.1556G>C | NP_001278956.1:p.Arg519Pro | |
| NM_001292028.1:c.1208G>C | NP_001278957.1:p.Arg403Pro | |
| NM_000414.4:c.1628G>C MANE Select | NP_000405.1:p.Arg543Pro | |
| NM_001199291.3:c.1703G>C | NP_001186220.1:p.Arg568Pro | |
| NM_001199292.2:c.1574G>C | NP_001186221.1:p.Arg525Pro | |
| NM_001292027.2:c.1556G>C | NP_001278956.1:p.Arg519Pro | |
| NM_001292028.2:c.1208G>C | NP_001278957.1:p.Arg403Pro | |
| NM_001374497.1:c.1619G>C | NP_001361426.1:p.Arg540Pro | |
| NM_001374498.1:c.1556G>C | NP_001361427.1:p.Arg519Pro | |
| NM_001374499.1:c.1301G>C | NP_001361428.1:p.Arg434Pro | |
| NM_001374500.1:c.1187G>C | NP_001361429.1:p.Arg396Pro | |
| NM_001374501.1:c.1217G>C | NP_001361430.1:p.Arg406Pro | |
| NM_001374502.1:c.1217G>C | NP_001361431.1:p.Arg406Pro | |
| NM_001374503.1:c.1217G>C | NP_001361432.1:p.Arg406Pro | |
| NR_164653.1:n.1725G>C | ||
| NR_164654.1:n.1993G>C |