Linked Data
ClinVar Variation Id:
39513
ClinVar RCV Id:
RCV000032709
dbSNP Id:
rs397514518
PubMed:
PMID:22323744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70942472T>C , CM000667.2:g.70942472T>C | GRCh38 |
| NC_000005.9:g.70238299T>C , CM000667.1:g.70238299T>C | GRCh37 |
| NC_000005.8:g.70274055T>C | NCBI36 |
| NG_008691.1:g.22532T>C , LRG_676:g.22532T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380707.9:c.388T>C MANE Select | ENSP00000370083.4:p.Tyr130His | |
| ENST00000351205.8:c.388T>C | ENSP00000305857.5:p.Tyr130His | |
| ENST00000380707.8:c.388T>C | ENSP00000370083.4:p.Tyr130His | |
| ENST00000503079.6:c.388T>C | ENSP00000428128.1:p.Tyr130His | |
| ENST00000506163.5:c.388T>C | ENSP00000424926.1:p.Tyr130His | |
| ENST00000506239.6:c.388T>C | ENSP00000422679.2:p.Tyr130His | |
| ENST00000514951.5:c.274-246T>C | ENSP00000423298.1:n.274-246T>C | |
| ENST00000518504.5:n.1T>C | ||
| ENST00000625245.2:c.388T>C | ENSP00000486539.1:p.Tyr130His | |
| NM_000344.3:c.388T>C , LRG_676t1:c.388T>C | NP_000335.1:p.Tyr130His | |
| NM_001297715.1:c.388T>C | NP_001284644.1:p.Tyr130His | |
| NM_022874.2:c.388T>C | NP_075012.1:p.Tyr130His | |
| XM_011543596.1:c.388T>C | XP_011541898.1:p.Tyr130His | |
| XM_011543597.1:c.274-246T>C | XP_011541899.1:n.274-246T>C | |
| XM_011543598.1:c.274-246T>C | XP_011541900.1:n.274-246T>C | |
| XM_011543598.3:c.274-246T>C | XP_011541900.1:n.274-246T>C | |
| XM_017009786.1:c.388T>C | XP_016865275.1:p.Tyr130His | |
| NM_000344.4:c.388T>C MANE Select | NP_000335.1:p.Tyr130His |