Linked Data
ClinVar Variation Id:
1006616
dbSNP Id:
rs372914814
ExAC:
5:118814660 G / C
gnomAD v2:
5-118814660-G-C
gnomAD v3:
5-119478965-G-C
gnomAD v4:
5-119478965-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478965G>C , CM000667.2:g.119478965G>C | GRCh38 |
| NC_000005.9:g.118814660G>C , CM000667.1:g.118814660G>C | GRCh37 |
| NC_000005.8:g.118842559G>C | NCBI36 |
| NG_008182.1:g.31513G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.566G>C | ENSP00000426272.2:p.Cys189Ser | |
| ENST00000518349.6:c.113-17578G>C | ENSP00000507185.1:n.113-17578G>C | |
| ENST00000682445.1:c.*447G>C | ENSP00000508061.1:n.*447G>C | |
| ENST00000682531.1:n.667G>C | ||
| ENST00000682626.1:c.*72G>C | ENSP00000507857.1:n.*72G>C | |
| ENST00000682996.1:c.566G>C | ENSP00000507792.1:p.Cys189Ser | |
| ENST00000683265.1:n.659G>C | ||
| ENST00000683371.1:c.*696G>C | ENSP00000508376.1:n.*696G>C | |
| ENST00000683390.1:n.2256G>C | ||
| ENST00000683549.1:n.487G>C | ||
| ENST00000683936.1:c.*451G>C | ENSP00000507721.1:n.*451G>C | |
| ENST00000683974.1:n.648G>C | ||
| ENST00000683996.1:c.155G>C | ENSP00000507060.1:p.Cys52Ser | |
| ENST00000684131.1:n.405G>C | ||
| ENST00000684160.1:c.*256G>C | ENSP00000507821.1:n.*256G>C | |
| ENST00000684214.1:c.566G>C | ENSP00000508071.1:p.Cys189Ser | |
| ENST00000414835.7:c.641G>C | ENSP00000411960.3:p.Cys214Ser | |
| ENST00000510025.7:c.566G>C MANE Select | ENSP00000424940.3:p.Cys189Ser | |
| ENST00000643250.1:c.*438G>C | ENSP00000494737.1:n.*438G>C | |
| ENST00000644146.1:c.*144G>C | ENSP00000494808.1:n.*144G>C | |
| ENST00000645099.1:c.125G>C | ENSP00000496091.1:p.Cys42Ser | |
| ENST00000645702.1:c.155G>C | ENSP00000496432.1:p.Cys52Ser | |
| ENST00000645832.1:c.*451G>C | ENSP00000494316.1:n.*451G>C | |
| ENST00000646058.1:c.566G>C | ENSP00000493579.1:p.Cys189Ser | |
| ENST00000646355.1:c.*572G>C | ENSP00000493801.1:n.*572G>C | |
| ENST00000646554.1:c.*544G>C | ENSP00000494542.1:n.*544G>C | |
| ENST00000647335.1:c.*533G>C | ENSP00000495180.1:n.*533G>C | |
| ENST00000647342.1:c.*497G>C | ENSP00000494992.1:n.*497G>C | |
| ENST00000256216.10:c.566G>C | ENSP00000256216.6:p.Cys189Ser | |
| ENST00000414835.6:c.146G>C | ENSP00000411960.2:p.Cys49Ser | |
| ENST00000442060.7:c.566G>C | ENSP00000390208.3:p.Cys189Ser | |
| ENST00000503168.5:n.555G>C | ||
| ENST00000504811.5:c.641G>C | ENSP00000420914.1:p.Cys214Ser | |
| ENST00000505181.5:n.269G>C | ||
| ENST00000509514.5:c.-319G>C | ENSP00000426272.1:n.-319G>C | |
| ENST00000510025.5:c.494G>C | ENSP00000424940.1:p.Cys165Ser | |
| ENST00000512644.1:n.134G>C | ||
| ENST00000513628.5:c.155G>C | ENSP00000425993.1:p.Cys52Ser | |
| ENST00000515235.6:n.626G>C | ||
| ENST00000515320.5:c.512G>C | ENSP00000424613.1:p.Cys171Ser | |
| NM_000414.3:c.566G>C | NP_000405.1:p.Cys189Ser | |
| NM_001199291.2:c.641G>C | NP_001186220.1:p.Cys214Ser | |
| NM_001199292.1:c.512G>C | NP_001186221.1:p.Cys171Ser | |
| NM_001292027.1:c.494G>C | NP_001278956.1:p.Cys165Ser | |
| NM_001292028.1:c.146G>C | NP_001278957.1:p.Cys49Ser | |
| NM_000414.4:c.566G>C MANE Select | NP_000405.1:p.Cys189Ser | |
| NM_001199291.3:c.641G>C | NP_001186220.1:p.Cys214Ser | |
| NM_001199292.2:c.512G>C | NP_001186221.1:p.Cys171Ser | |
| NM_001292027.2:c.494G>C | NP_001278956.1:p.Cys165Ser | |
| NM_001292028.2:c.146G>C | NP_001278957.1:p.Cys49Ser | |
| NM_001374497.1:c.557G>C | NP_001361426.1:p.Cys186Ser | |
| NM_001374498.1:c.566G>C | NP_001361427.1:p.Cys189Ser | |
| NM_001374499.1:c.239G>C | NP_001361428.1:p.Cys80Ser | |
| NM_001374500.1:c.125G>C | NP_001361429.1:p.Cys42Ser | |
| NM_001374501.1:c.155G>C | NP_001361430.1:p.Cys52Ser | |
| NM_001374502.1:c.155G>C | NP_001361431.1:p.Cys52Ser | |
| NM_001374503.1:c.155G>C | NP_001361432.1:p.Cys52Ser | |
| NR_164653.1:n.645G>C | ||
| NR_164654.1:n.833G>C |