Linked Data
ClinVar Variation Id:
1553274
ClinVar RCV Id:
RCV002187464
dbSNP Id:
rs2126740088
MyVariant Identifiers:
chr5:g.118824915T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119489220T>C , CM000667.2:g.119489220T>C | GRCh38 |
| NC_000005.9:g.118824915T>C , CM000667.1:g.118824915T>C | GRCh37 |
| NC_000005.8:g.118852814T>C | NCBI36 |
| NG_008182.1:g.41768T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.651T>C | ENSP00000426272.2:p.Tyr217= | |
| ENST00000518349.6:c.113-7323T>C | ENSP00000507185.1:n.113-7323T>C | |
| ENST00000682445.1:c.*532T>C | ENSP00000508061.1:n.*532T>C | |
| ENST00000682531.1:n.752T>C | ||
| ENST00000682626.1:c.*157T>C | ENSP00000507857.1:n.*157T>C | |
| ENST00000682996.1:c.651T>C | ENSP00000507792.1:p.Tyr217= | |
| ENST00000683265.1:n.744T>C | ||
| ENST00000683371.1:c.*781T>C | ENSP00000508376.1:n.*781T>C | |
| ENST00000683390.1:n.2341T>C | ||
| ENST00000683549.1:n.572T>C | ||
| ENST00000683936.1:c.*536T>C | ENSP00000507721.1:n.*536T>C | |
| ENST00000683974.1:n.733T>C | ||
| ENST00000683996.1:c.240T>C | ENSP00000507060.1:p.Tyr80= | |
| ENST00000684131.1:n.490T>C | ||
| ENST00000684160.1:c.*341T>C | ENSP00000507821.1:n.*341T>C | |
| ENST00000684214.1:c.651T>C | ENSP00000508071.1:p.Tyr217= | |
| ENST00000414835.7:c.726T>C | ENSP00000411960.3:p.Tyr242= | |
| ENST00000510025.7:c.651T>C MANE Select | ENSP00000424940.3:p.Tyr217= | |
| ENST00000643250.1:c.*523T>C | ENSP00000494737.1:n.*523T>C | |
| ENST00000644146.1:c.*229T>C | ENSP00000494808.1:n.*229T>C | |
| ENST00000645099.1:c.210T>C | ENSP00000496091.1:p.Tyr70= | |
| ENST00000645702.1:c.*54T>C | ENSP00000496432.1:n.*54T>C | |
| ENST00000645832.1:c.*536T>C | ENSP00000494316.1:n.*536T>C | |
| ENST00000646058.1:c.651T>C | ENSP00000493579.1:p.Tyr217= | |
| ENST00000646355.1:c.*657T>C | ENSP00000493801.1:n.*657T>C | |
| ENST00000646554.1:c.*629T>C | ENSP00000494542.1:n.*629T>C | |
| ENST00000647335.1:c.*618T>C | ENSP00000495180.1:n.*618T>C | |
| ENST00000647342.1:c.*582T>C | ENSP00000494992.1:n.*582T>C | |
| ENST00000256216.10:c.651T>C | ENSP00000256216.6:p.Tyr217= | |
| ENST00000414835.6:c.231T>C | ENSP00000411960.2:p.Tyr77= | |
| ENST00000442060.7:c.651T>C | ENSP00000390208.3:p.Tyr217= | |
| ENST00000504811.5:c.726T>C | ENSP00000420914.1:p.Tyr242= | |
| ENST00000505181.5:n.354T>C | ||
| ENST00000509514.5:c.-234T>C | ENSP00000426272.1:n.-234T>C | |
| ENST00000510025.5:c.579T>C | ENSP00000424940.1:p.Tyr193= | |
| ENST00000512644.1:n.219T>C | ||
| ENST00000513628.5:c.240T>C | ENSP00000425993.1:p.Tyr80= | |
| ENST00000515235.6:n.711T>C | ||
| ENST00000515320.5:c.597T>C | ENSP00000424613.1:p.Tyr199= | |
| NM_000414.3:c.651T>C | NP_000405.1:p.Tyr217= | |
| NM_001199291.2:c.726T>C | NP_001186220.1:p.Tyr242= | |
| NM_001199292.1:c.597T>C | NP_001186221.1:p.Tyr199= | |
| NM_001292027.1:c.579T>C | NP_001278956.1:p.Tyr193= | |
| NM_001292028.1:c.231T>C | NP_001278957.1:p.Tyr77= | |
| NM_000414.4:c.651T>C MANE Select | NP_000405.1:p.Tyr217= | |
| NM_001199291.3:c.726T>C | NP_001186220.1:p.Tyr242= | |
| NM_001199292.2:c.597T>C | NP_001186221.1:p.Tyr199= | |
| NM_001292027.2:c.579T>C | NP_001278956.1:p.Tyr193= | |
| NM_001292028.2:c.231T>C | NP_001278957.1:p.Tyr77= | |
| NM_001374497.1:c.642T>C | NP_001361426.1:p.Tyr214= | |
| NM_001374498.1:c.651T>C | NP_001361427.1:p.Tyr217= | |
| NM_001374499.1:c.324T>C | NP_001361428.1:p.Tyr108= | |
| NM_001374500.1:c.210T>C | NP_001361429.1:p.Tyr70= | |
| NM_001374501.1:c.240T>C | NP_001361430.1:p.Tyr80= | |
| NM_001374502.1:c.240T>C | NP_001361431.1:p.Tyr80= | |
| NM_001374503.1:c.240T>C | NP_001361432.1:p.Tyr80= | |
| NR_164653.1:n.730T>C | ||
| NR_164654.1:n.918T>C |