Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792240A>G , CM000677.2:g.34792240A>G | GRCh38 |
| NC_000015.9:g.35084441A>G , CM000677.1:g.35084441A>G | GRCh37 |
| NC_000015.8:g.32871733A>G | NCBI36 |
| NG_007553.1:g.8487T>C , LRG_388:g.8487T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.764T>C (ACTC1) | ||
| ENST00000290378.6:c.658T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Tyr220His | |
| ENST00000647798.1:n.752T>C (ACTC1) | ||
| ENST00000650163.1:n.738T>C (ACTC1) | ||
| ENST00000290378.4:c.658T>C (ACTC1) | ENSP00000290378.4:p.Tyr220His | |
| ENST00000557860.1:n.348T>C (ACTC1) | ||
| ENST00000560563.1:n.157T>C (ACTC1) | ||
| NM_005159.4:c.658T>C , LRG_388t1:c.658T>C (ACTC1) | NP_005150.1:p.Tyr220His | |
| NR_120329.1:n.299+14809A>G (GJD2-DT) | ||
| NM_005159.5:c.658T>C (ACTC1) MANE Select | NP_005150.1:p.Tyr220His |