Linked Data
ClinVar Variation Id:
495866
dbSNP Id:
rs766199971
ExAC:
5:118860923 C / T
gnomAD v2:
5-118860923-C-T
gnomAD v3:
5-119525228-C-T
gnomAD v4:
5-119525228-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119525228C>T , CM000667.2:g.119525228C>T | GRCh38 |
| NC_000005.9:g.118860923C>T , CM000667.1:g.118860923C>T | GRCh37 |
| NC_000005.8:g.118888822C>T | NCBI36 |
| NG_008182.1:g.77776C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1447C>T | ENSP00000426272.2:p.Arg483Cys | |
| ENST00000518349.6:c.760C>T | ENSP00000507185.1:p.Arg254Cys | |
| ENST00000520244.6:n.3254C>T | ||
| ENST00000682445.1:c.*1397C>T | ENSP00000508061.1:n.*1397C>T | |
| ENST00000682531.1:n.3408C>T | ||
| ENST00000682626.1:c.*1022C>T | ENSP00000507857.1:n.*1022C>T | |
| ENST00000682996.1:c.1444C>T | ENSP00000507792.1:p.Arg482Cys | |
| ENST00000683265.1:n.3302C>T | ||
| ENST00000683335.1:n.2918C>T | ||
| ENST00000683371.1:c.*1646C>T | ENSP00000508376.1:n.*1646C>T | |
| ENST00000683372.1:n.3526C>T | ||
| ENST00000683390.1:n.3206C>T | ||
| ENST00000683476.1:n.358C>T | ||
| ENST00000683549.1:n.3130C>T | ||
| ENST00000683936.1:c.*3094C>T | ENSP00000507721.1:n.*3094C>T | |
| ENST00000683974.1:n.3245C>T | ||
| ENST00000683996.1:c.*726C>T | ENSP00000507060.1:n.*726C>T | |
| ENST00000684131.1:n.3048C>T | ||
| ENST00000684160.1:c.*1206C>T | ENSP00000507821.1:n.*1206C>T | |
| ENST00000684214.1:c.1516C>T | ENSP00000508071.1:p.Arg506Cys | |
| ENST00000414835.7:c.1591C>T | ENSP00000411960.3:p.Arg531Cys | |
| ENST00000510025.7:c.1516C>T MANE Select | ENSP00000424940.3:p.Arg506Cys | |
| ENST00000643250.1:c.*1388C>T | ENSP00000494737.1:n.*1388C>T | |
| ENST00000644146.1:c.*2787C>T | ENSP00000494808.1:n.*2787C>T | |
| ENST00000645099.1:c.1075C>T | ENSP00000496091.1:p.Arg359Cys | |
| ENST00000645702.1:c.*919C>T | ENSP00000496432.1:n.*919C>T | |
| ENST00000645832.1:c.*1401C>T | ENSP00000494316.1:n.*1401C>T | |
| ENST00000646058.1:c.1516C>T | ENSP00000493579.1:p.Arg506Cys | |
| ENST00000646355.1:c.*1522C>T | ENSP00000493801.1:n.*1522C>T | |
| ENST00000646554.1:c.*1494C>T | ENSP00000494542.1:n.*1494C>T | |
| ENST00000647335.1:c.*1483C>T | ENSP00000495180.1:n.*1483C>T | |
| ENST00000647342.1:c.*1447C>T | ENSP00000494992.1:n.*1447C>T | |
| ENST00000256216.10:c.1516C>T | ENSP00000256216.6:p.Arg506Cys | |
| ENST00000414835.6:c.1096C>T | ENSP00000411960.2:p.Arg366Cys | |
| ENST00000442060.7:c.*78C>T | ENSP00000390208.3:n.*78C>T | |
| ENST00000504811.5:c.1591C>T | ENSP00000420914.1:p.Arg531Cys | |
| ENST00000509514.5:c.730C>T | ENSP00000426272.1:p.Arg244Cys | |
| ENST00000510025.5:c.1444C>T | ENSP00000424940.1:p.Arg482Cys | |
| ENST00000513628.5:c.1105C>T | ENSP00000425993.1:p.Arg369Cys | |
| ENST00000515235.6:n.3269C>T | ||
| ENST00000515320.5:c.1462C>T | ENSP00000424613.1:p.Arg488Cys | |
| ENST00000518349.5:n.650C>T | ||
| ENST00000520244.5:n.299C>T | ||
| ENST00000522415.5:n.183C>T | ||
| NM_000414.3:c.1516C>T | NP_000405.1:p.Arg506Cys | |
| NM_001199291.2:c.1591C>T | NP_001186220.1:p.Arg531Cys | |
| NM_001199292.1:c.1462C>T | NP_001186221.1:p.Arg488Cys | |
| NM_001292027.1:c.1444C>T | NP_001278956.1:p.Arg482Cys | |
| NM_001292028.1:c.1096C>T | NP_001278957.1:p.Arg366Cys | |
| NM_000414.4:c.1516C>T MANE Select | NP_000405.1:p.Arg506Cys | |
| NM_001199291.3:c.1591C>T | NP_001186220.1:p.Arg531Cys | |
| NM_001199292.2:c.1462C>T | NP_001186221.1:p.Arg488Cys | |
| NM_001292027.2:c.1444C>T | NP_001278956.1:p.Arg482Cys | |
| NM_001292028.2:c.1096C>T | NP_001278957.1:p.Arg366Cys | |
| NM_001374497.1:c.1507C>T | NP_001361426.1:p.Arg503Cys | |
| NM_001374498.1:c.1444C>T | NP_001361427.1:p.Arg482Cys | |
| NM_001374499.1:c.1189C>T | NP_001361428.1:p.Arg397Cys | |
| NM_001374500.1:c.1075C>T | NP_001361429.1:p.Arg359Cys | |
| NM_001374501.1:c.1105C>T | NP_001361430.1:p.Arg369Cys | |
| NM_001374502.1:c.1105C>T | NP_001361431.1:p.Arg369Cys | |
| NM_001374503.1:c.1105C>T | NP_001361432.1:p.Arg369Cys | |
| NR_164653.1:n.1613C>T | ||
| NR_164654.1:n.1881C>T |