Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789022A= , CM000677.2:g.34789022A= | GRCh38 |
| NC_000015.9:g.35081223A= , CM000677.1:g.35081223A= | GRCh37 |
| NC_000015.8:g.32868515A= | NCBI36 |
| NG_007553.1:g.11705T= , LRG_388:g.11705T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*1390T= (ACTC1) | ENSP00000290378.4:n.*1390T= | |
| NM_005159.4:c.*1390T= , LRG_388t1:c.*1390T= (ACTC1) | NP_005150.1:n.*1390T= | |
| NR_120329.1:n.299+11591A= (GJD2-DT) |