Linked Data
ClinVar Variation Id:
806544
dbSNP Id:
rs778887472
ExAC:
10:90695002 A / G
gnomAD v2:
10-90695002-A-G
gnomAD v3:
10-88935245-A-G
gnomAD v4:
10-88935245-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88935245A>G , CM000672.2:g.88935245A>G | GRCh38 |
| NC_000010.10:g.90695002A>G , CM000672.1:g.90695002A>G | GRCh37 |
| NC_000010.9:g.90684982A>G | NCBI36 |
| NG_011541.1:g.61146T>C , LRG_781:g.61146T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415557.2:c.1112T>C (ACTA2) | ENSP00000396730.2:p.Ile371Thr | |
| ENST00000458159.6:c.1112T>C (ACTA2) | ENSP00000398239.2:p.Ile371Thr | |
| ENST00000480297.6:n.2708T>C (ACTA2) | ||
| ENST00000224784.10:c.1112T>C (ACTA2) MANE Select | ENSP00000224784.6:p.Ile371Thr | |
| ENST00000371927.7:c.1254+12809A>G (STAMBPL1) | ENSP00000360995.3:n.1254+12809A>G | |
| ENST00000458208.5:c.1112T>C (ACTA2) | ENSP00000402373.1:p.Ile371Thr | |
| NM_001141945.1:c.1112T>C , LRG_781t2:c.1112T>C (ACTA2) | NP_001135417.1:p.Ile371Thr | |
| NM_001613.2:c.1112T>C , LRG_781t1:c.1112T>C (ACTA2) | NP_001604.1:p.Ile371Thr | |
| NR_125373.1:n.870A>G (ACTA2-AS1) | ||
| XM_011540016.1:c.1112T>C (ACTA2) | XP_011538318.1:p.Ile371Thr | |
| NM_001141945.2:c.1112T>C (ACTA2) | NP_001135417.1:p.Ile371Thr | |
| NM_001320855.1:c.1112T>C (ACTA2) | NP_001307784.1:p.Ile371Thr | |
| NM_001613.3:c.1112T>C (ACTA2) | NP_001604.1:p.Ile371Thr | |
| NM_001613.4:c.1112T>C (ACTA2) MANE Select | NP_001604.1:p.Ile371Thr |