Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792171C>G , CM000677.2:g.34792171C>G | GRCh38 |
| NC_000015.9:g.35084372C>G , CM000677.1:g.35084372C>G | GRCh37 |
| NC_000015.8:g.32871664C>G | NCBI36 |
| NG_007553.1:g.8556G>C , LRG_388:g.8556G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.833G>C (ACTC1) | ||
| ENST00000290378.6:c.727G>C (ACTC1) MANE Select | ENSP00000290378.4:p.Glu243Gln | |
| ENST00000647798.1:n.821G>C (ACTC1) | ||
| ENST00000650163.1:n.807G>C (ACTC1) | ||
| ENST00000290378.4:c.727G>C (ACTC1) | ENSP00000290378.4:p.Glu243Gln | |
| ENST00000557860.1:n.417G>C (ACTC1) | ||
| ENST00000560563.1:n.226G>C (ACTC1) | ||
| NM_005159.4:c.727G>C , LRG_388t1:c.727G>C (ACTC1) | NP_005150.1:p.Glu243Gln | |
| NR_120329.1:n.299+14740C>G (GJD2-DT) | ||
| NM_005159.5:c.727G>C (ACTC1) MANE Select | NP_005150.1:p.Glu243Gln |