Linked Data
ClinVar Variation Id:
199668
dbSNP Id:
rs794728023
gnomAD v3:
10-88947269-C-T
gnomAD v4:
10-88947269-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88947269C>T , CM000672.2:g.88947269C>T | GRCh38 |
| NC_000010.10:g.90707026C>T , CM000672.1:g.90707026C>T | GRCh37 |
| NC_000010.9:g.90697006C>T | NCBI36 |
| NG_011541.1:g.49122G>A , LRG_781:g.49122G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415557.2:c.247G>A (ACTA2) | ENSP00000396730.2:p.Asp83Asn | |
| ENST00000458159.6:c.247G>A (ACTA2) | ENSP00000398239.2:p.Asp83Asn | |
| ENST00000480297.6:n.313G>A (ACTA2) | ||
| ENST00000482085.2:n.1728G>A (ACTA2) | ||
| ENST00000224784.10:c.247G>A (ACTA2) MANE Select | ENSP00000224784.6:p.Asp83Asn | |
| ENST00000371927.7:c.1254+24833C>T (STAMBPL1) | ENSP00000360995.3:n.1254+24833C>T | |
| ENST00000415557.1:c.247G>A (ACTA2) | ENSP00000396730.1:p.Asp83Asn | |
| ENST00000458159.5:c.247G>A (ACTA2) | ENSP00000398239.1:p.Asp83Asn | |
| ENST00000458208.5:c.247G>A (ACTA2) | ENSP00000402373.1:p.Asp83Asn | |
| ENST00000480297.5:n.287G>A (ACTA2) | ||
| ENST00000488967.5:n.313G>A (ACTA2) | ||
| NM_001141945.1:c.247G>A , LRG_781t2:c.247G>A (ACTA2) | NP_001135417.1:p.Asp83Asn | |
| NM_001613.2:c.247G>A , LRG_781t1:c.247G>A (ACTA2) | NP_001604.1:p.Asp83Asn | |
| XM_011540016.1:c.247G>A (ACTA2) | XP_011538318.1:p.Asp83Asn | |
| NM_001141945.2:c.247G>A (ACTA2) | NP_001135417.1:p.Asp83Asn | |
| NM_001320855.1:c.247G>A (ACTA2) | NP_001307784.1:p.Asp83Asn | |
| NM_001613.3:c.247G>A (ACTA2) | NP_001604.1:p.Asp83Asn | |
| NM_001613.4:c.247G>A (ACTA2) MANE Select | NP_001604.1:p.Asp83Asn |