Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790102C>G , CM000677.2:g.34790102C>G | GRCh38 |
| NC_000015.9:g.35082303C>G , CM000677.1:g.35082303C>G | GRCh37 |
| NC_000015.8:g.32869595C>G | NCBI36 |
| NG_007553.1:g.10625G>C , LRG_388:g.10625G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*310G>C (ACTC1) | ENSP00000290378.4:n.*310G>C | |
| NM_005159.4:c.*310G>C , LRG_388t1:c.*310G>C (ACTC1) | NP_005150.1:n.*310G>C | |
| NR_120329.1:n.299+12671C>G (GJD2-DT) |