Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789562T>C , CM000677.2:g.34789562T>C | GRCh38 |
| NC_000015.9:g.35081763T>C , CM000677.1:g.35081763T>C | GRCh37 |
| NC_000015.8:g.32869055T>C | NCBI36 |
| NG_007553.1:g.11165A>G , LRG_388:g.11165A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*850A>G (ACTC1) | ENSP00000290378.4:n.*850A>G | |
| NM_005159.4:c.*850A>G , LRG_388t1:c.*850A>G (ACTC1) | NP_005150.1:n.*850A>G | |
| NR_120329.1:n.299+12131T>C (GJD2-DT) |