Linked Data
ClinVar Variation Id:
29598
ClinVar RCV Id:
RCV000022437
RCV000022438
RCV000181023
RCV000211886
RCV000228180
RCV000415107
RCV000763224
RCV004532396
dbSNP Id:
rs387906592
PubMed:
PMID:10532176
PMID:13129918
PMID:14730227
PMID:15138499
PMID:15472996
PMID:19409525
PMID:20734336
PMID:20970362
PMID:22302747
PMID:22543189
PMID:22752479
PMID:22790431
PMID:22831780
PMID:22946110
PMID:23253043
PMID:23613326
PMID:24293535
PMID:24621862
PMID:24998021
PMID:25759435
PMID:25944730
PMID:26034244
PMID:26637293
PMID:27176728
PMID:27481187
PMID:27549731
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88941309C>T , CM000672.2:g.88941309C>T | GRCh38 |
| NC_000010.10:g.90701066C>T , CM000672.1:g.90701066C>T | GRCh37 |
| NC_000010.9:g.90691046C>T | NCBI36 |
| NG_011541.1:g.55082G>A , LRG_781:g.55082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415557.2:c.536G>A (ACTA2) | ENSP00000396730.2:p.Arg179His | |
| ENST00000458159.6:c.536G>A (ACTA2) | ENSP00000398239.2:p.Arg179His | |
| ENST00000480297.6:n.602G>A (ACTA2) | ||
| ENST00000224784.10:c.536G>A (ACTA2) MANE Select | ENSP00000224784.6:p.Arg179His | |
| ENST00000371927.7:c.1254+18873C>T (STAMBPL1) | ENSP00000360995.3:n.1254+18873C>T | |
| ENST00000458208.5:c.536G>A (ACTA2) | ENSP00000402373.1:p.Arg179His | |
| ENST00000480297.5:n.576G>A (ACTA2) | ||
| NM_001141945.1:c.536G>A , LRG_781t2:c.536G>A (ACTA2) | NP_001135417.1:p.Arg179His | |
| NM_001613.2:c.536G>A , LRG_781t1:c.536G>A (ACTA2) | NP_001604.1:p.Arg179His | |
| XM_011540016.1:c.536G>A (ACTA2) | XP_011538318.1:p.Arg179His | |
| NM_001141945.2:c.536G>A (ACTA2) | NP_001135417.1:p.Arg179His | |
| NM_001320855.1:c.536G>A (ACTA2) | NP_001307784.1:p.Arg179His | |
| NM_001613.3:c.536G>A (ACTA2) | NP_001604.1:p.Arg179His | |
| NM_001613.4:c.536G>A (ACTA2) MANE Select | NP_001604.1:p.Arg179His |