Linked Data
ClinVar Variation Id:
370147
ClinVar RCV Id:
RCV000410643
dbSNP Id:
rs1057516269
gnomAD v4:
5-119496546-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119496546C>G , CM000667.2:g.119496546C>G | GRCh38 |
| NC_000005.9:g.118832241C>G , CM000667.1:g.118832241C>G | GRCh37 |
| NC_000005.8:g.118860140C>G | NCBI36 |
| NG_008182.1:g.49094C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509514.6:c.872C>G | ENSP00000426272.2:p.Ser291Ter | |
| ENST00000518349.6:c.116C>G | ENSP00000507185.1:p.Ser39Ter | |
| ENST00000682445.1:c.*753C>G | ENSP00000508061.1:n.*753C>G | |
| ENST00000682531.1:n.2764C>G | ||
| ENST00000682626.1:c.*378C>G | ENSP00000507857.1:n.*378C>G | |
| ENST00000682996.1:c.872C>G | ENSP00000507792.1:p.Ser291Ter | |
| ENST00000683265.1:n.2658C>G | ||
| ENST00000683371.1:c.*1002C>G | ENSP00000508376.1:n.*1002C>G | |
| ENST00000683372.1:n.2882C>G | ||
| ENST00000683390.1:n.2562C>G | ||
| ENST00000683549.1:n.2486C>G | ||
| ENST00000683936.1:c.*2450C>G | ENSP00000507721.1:n.*2450C>G | |
| ENST00000683974.1:n.2647C>G | ||
| ENST00000683996.1:c.*82C>G | ENSP00000507060.1:n.*82C>G | |
| ENST00000684131.1:n.2404C>G | ||
| ENST00000684160.1:c.*562C>G | ENSP00000507821.1:n.*562C>G | |
| ENST00000684214.1:c.872C>G | ENSP00000508071.1:p.Ser291Ter | |
| ENST00000414835.7:c.947C>G | ENSP00000411960.3:p.Ser316Ter | |
| ENST00000510025.7:c.872C>G MANE Select | ENSP00000424940.3:p.Ser291Ter | |
| ENST00000643250.1:c.*744C>G | ENSP00000494737.1:n.*744C>G | |
| ENST00000644146.1:c.*2143C>G | ENSP00000494808.1:n.*2143C>G | |
| ENST00000645099.1:c.431C>G | ENSP00000496091.1:p.Ser144Ter | |
| ENST00000645702.1:c.*275C>G | ENSP00000496432.1:n.*275C>G | |
| ENST00000645832.1:c.*757C>G | ENSP00000494316.1:n.*757C>G | |
| ENST00000646058.1:c.872C>G | ENSP00000493579.1:p.Ser291Ter | |
| ENST00000646355.1:c.*878C>G | ENSP00000493801.1:n.*878C>G | |
| ENST00000646554.1:c.*850C>G | ENSP00000494542.1:n.*850C>G | |
| ENST00000647335.1:c.*839C>G | ENSP00000495180.1:n.*839C>G | |
| ENST00000647342.1:c.*803C>G | ENSP00000494992.1:n.*803C>G | |
| ENST00000256216.10:c.872C>G | ENSP00000256216.6:p.Ser291Ter | |
| ENST00000414835.6:c.452C>G | ENSP00000411960.2:p.Ser151Ter | |
| ENST00000442060.7:c.872C>G | ENSP00000390208.3:p.Ser291Ter | |
| ENST00000504811.5:c.947C>G | ENSP00000420914.1:p.Ser316Ter | |
| ENST00000509514.5:c.86C>G | ENSP00000426272.1:p.Ser29Ter | |
| ENST00000510025.5:c.800C>G | ENSP00000424940.1:p.Ser267Ter | |
| ENST00000513628.5:c.461C>G | ENSP00000425993.1:p.Ser154Ter | |
| ENST00000515235.6:n.2625C>G | ||
| ENST00000515320.5:c.818C>G | ENSP00000424613.1:p.Ser273Ter | |
| ENST00000518349.5:n.6C>G | ||
| ENST00000520216.5:n.133C>G | ||
| NM_000414.3:c.872C>G | NP_000405.1:p.Ser291Ter | |
| NM_001199291.2:c.947C>G | NP_001186220.1:p.Ser316Ter | |
| NM_001199292.1:c.818C>G | NP_001186221.1:p.Ser273Ter | |
| NM_001292027.1:c.800C>G | NP_001278956.1:p.Ser267Ter | |
| NM_001292028.1:c.452C>G | NP_001278957.1:p.Ser151Ter | |
| NM_000414.4:c.872C>G MANE Select | NP_000405.1:p.Ser291Ter | |
| NM_001199291.3:c.947C>G | NP_001186220.1:p.Ser316Ter | |
| NM_001199292.2:c.818C>G | NP_001186221.1:p.Ser273Ter | |
| NM_001292027.2:c.800C>G | NP_001278956.1:p.Ser267Ter | |
| NM_001292028.2:c.452C>G | NP_001278957.1:p.Ser151Ter | |
| NM_001374497.1:c.863C>G | NP_001361426.1:p.Ser288Ter | |
| NM_001374498.1:c.872C>G | NP_001361427.1:p.Ser291Ter | |
| NM_001374499.1:c.545C>G | NP_001361428.1:p.Ser182Ter | |
| NM_001374500.1:c.431C>G | NP_001361429.1:p.Ser144Ter | |
| NM_001374501.1:c.461C>G | NP_001361430.1:p.Ser154Ter | |
| NM_001374502.1:c.461C>G | NP_001361431.1:p.Ser154Ter | |
| NM_001374503.1:c.461C>G | NP_001361432.1:p.Ser154Ter | |
| NR_164653.1:n.969C>G | ||
| NR_164654.1:n.1237C>G |