Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789559G>T , CM000677.2:g.34789559G>T | GRCh38 |
| NC_000015.9:g.35081760G>T , CM000677.1:g.35081760G>T | GRCh37 |
| NC_000015.8:g.32869052G>T | NCBI36 |
| NG_007553.1:g.11168C>A , LRG_388:g.11168C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*853C>A (ACTC1) | ENSP00000290378.4:n.*853C>A | |
| NM_005159.4:c.*853C>A , LRG_388t1:c.*853C>A (ACTC1) | NP_005150.1:n.*853C>A | |
| NR_120329.1:n.299+12128G>T (GJD2-DT) |