Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790108T= , CM000677.2:g.34790108T= | GRCh38 |
| NC_000015.9:g.35082309T= , CM000677.1:g.35082309T= | GRCh37 |
| NC_000015.8:g.32869601T= | NCBI36 |
| NG_007553.1:g.10619A= , LRG_388:g.10619A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2338A= (ACTC1) | ||
| ENST00000290378.4:c.*304A= (ACTC1) | ENSP00000290378.4:n.*304A= | |
| NM_005159.4:c.*304A= , LRG_388t1:c.*304A= (ACTC1) | NP_005150.1:n.*304A= | |
| NR_120329.1:n.299+12677T= (GJD2-DT) |