gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000116 (NFE)
Genomes Max Group AF
0.00001172 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34795519G>C , CM000677.2:g.34795519G>C | GRCh38 |
| NC_000015.9:g.35087720G>C , CM000677.1:g.35087720G>C | GRCh37 |
| NC_000015.8:g.32875012G>C | NCBI36 |
| NG_007553.1:g.5208C>G , LRG_388:g.5208C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.71C>G (ACTC1) | ||
| ENST00000290378.6:c.-36C>G (ACTC1) MANE Select | ENSP00000290378.4:n.-36C>G | |
| ENST00000290378.4:c.-36C>G (ACTC1) | ENSP00000290378.4:n.-36C>G | |
| NM_005159.4:c.-36C>G , LRG_388t1:c.-36C>G (ACTC1) | NP_005150.1:n.-36C>G | |
| NR_120329.1:n.300-14977G>C (GJD2-DT) | ||
| NM_005159.5:c.-36C>G (ACTC1) MANE Select | NP_005150.1:n.-36C>G |