Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794755C>A , CM000677.2:g.34794755C>A | GRCh38 |
| NC_000015.9:g.35086956C>A , CM000677.1:g.35086956C>A | GRCh37 |
| NC_000015.8:g.32874248C>A | NCBI36 |
| NG_007553.1:g.5972G>T , LRG_388:g.5972G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.160G>T (ACTC1) | ||
| ENST00000290378.6:c.54G>T (ACTC1) MANE Select | ENSP00000290378.4:p.Leu18= | |
| ENST00000290378.4:c.54G>T (ACTC1) | ENSP00000290378.4:p.Leu18= | |
| NM_005159.4:c.54G>T , LRG_388t1:c.54G>T (ACTC1) | NP_005150.1:p.Leu18= | |
| NR_120329.1:n.300-15741C>A (GJD2-DT) | ||
| NM_005159.5:c.54G>T (ACTC1) MANE Select | NP_005150.1:p.Leu18= |