Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789850A= , CM000677.2:g.34789850A= | GRCh38 |
| NC_000015.9:g.35082051A= , CM000677.1:g.35082051A= | GRCh37 |
| NC_000015.8:g.32869343A= | NCBI36 |
| NG_007553.1:g.10877T= , LRG_388:g.10877T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*562T= (ACTC1) | ENSP00000290378.4:n.*562T= | |
| NM_005159.4:c.*562T= , LRG_388t1:c.*562T= (ACTC1) | NP_005150.1:n.*562T= | |
| NR_120329.1:n.299+12419A= (GJD2-DT) |