Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792158C= , CM000677.2:g.34792158C= | GRCh38 |
| NC_000015.9:g.35084359C= , CM000677.1:g.35084359C= | GRCh37 |
| NC_000015.8:g.32871651C= | NCBI36 |
| NG_007553.1:g.8569G= , LRG_388:g.8569G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.846G= (ACTC1) | ||
| ENST00000290378.6:c.740G= (ACTC1) MANE Select | ENSP00000290378.4:p.Gly247= | |
| ENST00000647798.1:n.834G= (ACTC1) | ||
| ENST00000650163.1:n.820G= (ACTC1) | ||
| ENST00000290378.4:c.740G= (ACTC1) | ENSP00000290378.4:p.Gly247= | |
| ENST00000557860.1:n.430G= (ACTC1) | ||
| ENST00000560563.1:n.239G= (ACTC1) | ||
| NM_005159.4:c.740G= , LRG_388t1:c.740G= (ACTC1) | NP_005150.1:p.Gly247= | |
| NR_120329.1:n.299+14727C= (GJD2-DT) | ||
| NM_005159.5:c.740G= (ACTC1) MANE Select | NP_005150.1:p.Gly247= |