Linked Data
dbSNP Id:
rs369478419
ExAC:
10:90698010 G / A
gnomAD v2:
10-90698010-G-A
gnomAD v4:
10-88938253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88938253G>A , CM000672.2:g.88938253G>A | GRCh38 |
| NC_000010.10:g.90698010G>A , CM000672.1:g.90698010G>A | GRCh37 |
| NC_000010.9:g.90687990G>A | NCBI36 |
| NG_011541.1:g.58138C>T , LRG_781:g.58138C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415557.2:c.809-11C>T (ACTA2) | ENSP00000396730.2:n.809-11C>T | |
| ENST00000458159.6:c.809-11C>T (ACTA2) | ENSP00000398239.2:n.809-11C>T | |
| ENST00000480297.6:n.2405-11C>T (ACTA2) | ||
| ENST00000224784.10:c.809-11C>T (ACTA2) MANE Select | ENSP00000224784.6:n.809-11C>T | |
| ENST00000371927.7:c.1254+15817G>A (STAMBPL1) | ENSP00000360995.3:n.1254+15817G>A | |
| ENST00000458208.5:c.809-11C>T (ACTA2) | ENSP00000402373.1:n.809-11C>T | |
| NM_001141945.1:c.809-11C>T , LRG_781t2:c.809-11C>T (ACTA2) | NP_001135417.1:n.809-11C>T | |
| NM_001613.2:c.809-11C>T , LRG_781t1:c.809-11C>T (ACTA2) | NP_001604.1:n.809-11C>T | |
| NR_125373.1:n.1240G>A (ACTA2-AS1) | ||
| XM_011540016.1:c.809-11C>T (ACTA2) | XP_011538318.1:n.809-11C>T | |
| NM_001141945.2:c.809-11C>T (ACTA2) | NP_001135417.1:n.809-11C>T | |
| NM_001320855.1:c.809-11C>T (ACTA2) | NP_001307784.1:n.809-11C>T | |
| NM_001613.3:c.809-11C>T (ACTA2) | NP_001604.1:n.809-11C>T | |
| NM_001613.4:c.809-11C>T (ACTA2) MANE Select | NP_001604.1:n.809-11C>T |