Linked Data
ClinVar Variation Id:
39512
ClinVar RCV Id:
RCV000032708
dbSNP Id:
rs397514517
PubMed:
PMID:22323744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70942473A>G , CM000667.2:g.70942473A>G | GRCh38 |
| NC_000005.9:g.70238300A>G , CM000667.1:g.70238300A>G | GRCh37 |
| NC_000005.8:g.70274056A>G | NCBI36 |
| NG_008691.1:g.22533A>G , LRG_676:g.22533A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380707.9:c.389A>G MANE Select | ENSP00000370083.4:p.Tyr130Cys | |
| ENST00000351205.8:c.389A>G | ENSP00000305857.5:p.Tyr130Cys | |
| ENST00000380707.8:c.389A>G | ENSP00000370083.4:p.Tyr130Cys | |
| ENST00000503079.6:c.389A>G | ENSP00000428128.1:p.Tyr130Cys | |
| ENST00000506163.5:c.389A>G | ENSP00000424926.1:p.Tyr130Cys | |
| ENST00000506239.6:c.389A>G | ENSP00000422679.2:p.Tyr130Cys | |
| ENST00000514951.5:c.274-245A>G | ENSP00000423298.1:n.274-245A>G | |
| ENST00000518504.5:n.2A>G | ||
| ENST00000625245.2:c.389A>G | ENSP00000486539.1:p.Tyr130Cys | |
| NM_000344.3:c.389A>G , LRG_676t1:c.389A>G | NP_000335.1:p.Tyr130Cys | |
| NM_001297715.1:c.389A>G | NP_001284644.1:p.Tyr130Cys | |
| NM_022874.2:c.389A>G | NP_075012.1:p.Tyr130Cys | |
| XM_011543596.1:c.389A>G | XP_011541898.1:p.Tyr130Cys | |
| XM_011543597.1:c.274-245A>G | XP_011541899.1:n.274-245A>G | |
| XM_011543598.1:c.274-245A>G | XP_011541900.1:n.274-245A>G | |
| XM_011543598.3:c.274-245A>G | XP_011541900.1:n.274-245A>G | |
| XM_017009786.1:c.389A>G | XP_016865275.1:p.Tyr130Cys | |
| NM_000344.4:c.389A>G MANE Select | NP_000335.1:p.Tyr130Cys |