gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64885278 (NFE)
Genomes Max Group AF
0.64885278 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34788730T>C , CM000677.2:g.34788730T>C | GRCh38 |
| NC_000015.9:g.35080931T>C , CM000677.1:g.35080931T>C | GRCh37 |
| NC_000015.8:g.32868223T>C | NCBI36 |
| NG_007553.1:g.11997A>G , LRG_388:g.11997A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*1682A>G (ACTC1) | ENSP00000290378.4:n.*1682A>G | |
| NM_005159.4:c.*1682A>G , LRG_388t1:c.*1682A>G (ACTC1) | NP_005150.1:n.*1682A>G | |
| NR_120329.1:n.299+11299T>C (GJD2-DT) |