ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00015422 (EAS)
Exomes Max Group AF
0.00017475 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794665C>T , CM000677.2:g.34794665C>T | GRCh38 |
| NC_000015.9:g.35086866C>T , CM000677.1:g.35086866C>T | GRCh37 |
| NC_000015.8:g.32874158C>T | NCBI36 |
| NG_007553.1:g.6062G>A , LRG_388:g.6062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.235+15G>A (ACTC1) | ||
| ENST00000290378.6:c.129+15G>A (ACTC1) MANE Select | ENSP00000290378.4:n.129+15G>A | |
| ENST00000290378.4:c.129+15G>A (ACTC1) | ENSP00000290378.4:n.129+15G>A | |
| NM_005159.4:c.129+15G>A , LRG_388t1:c.129+15G>A (ACTC1) | NP_005150.1:n.129+15G>A | |
| NR_120329.1:n.300-15831C>T (GJD2-DT) | ||
| NM_005159.5:c.129+15G>A (ACTC1) MANE Select | NP_005150.1:n.129+15G>A |