Linked Data
ClinVar Variation Id:
264311
ClinVar RCV Id:
RCV002223833
dbSNP Id:
rs746972765
PubMed:
PMID:25759435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88941252C>T , CM000672.2:g.88941252C>T | GRCh38 |
| NC_000010.10:g.90701009C>T , CM000672.1:g.90701009C>T | GRCh37 |
| NC_000010.9:g.90690989C>T | NCBI36 |
| NG_011541.1:g.55139G>A , LRG_781:g.55139G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415557.2:c.593G>A (ACTA2) | ENSP00000396730.2:p.Arg198His | |
| ENST00000458159.6:c.593G>A (ACTA2) | ENSP00000398239.2:p.Arg198His | |
| ENST00000480297.6:n.659G>A (ACTA2) | ||
| ENST00000224784.10:c.593G>A (ACTA2) MANE Select | ENSP00000224784.6:p.Arg198His | |
| ENST00000371927.7:c.1254+18816C>T (STAMBPL1) | ENSP00000360995.3:n.1254+18816C>T | |
| ENST00000458208.5:c.593G>A (ACTA2) | ENSP00000402373.1:p.Arg198His | |
| ENST00000480297.5:n.633G>A (ACTA2) | ||
| NM_001141945.1:c.593G>A , LRG_781t2:c.593G>A (ACTA2) | NP_001135417.1:p.Arg198His | |
| NM_001613.2:c.593G>A , LRG_781t1:c.593G>A (ACTA2) | NP_001604.1:p.Arg198His | |
| XM_011540016.1:c.593G>A (ACTA2) | XP_011538318.1:p.Arg198His | |
| NM_001141945.2:c.593G>A (ACTA2) | NP_001135417.1:p.Arg198His | |
| NM_001320855.1:c.593G>A (ACTA2) | NP_001307784.1:p.Arg198His | |
| NM_001613.3:c.593G>A (ACTA2) | NP_001604.1:p.Arg198His | |
| NM_001613.4:c.593G>A (ACTA2) MANE Select | NP_001604.1:p.Arg198His |