Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792211C= , CM000677.2:g.34792211C= | GRCh38 |
| NC_000015.9:g.35084412C= , CM000677.1:g.35084412C= | GRCh37 |
| NC_000015.8:g.32871704C= | NCBI36 |
| NG_007553.1:g.8516G= , LRG_388:g.8516G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.793G= (ACTC1) | ||
| ENST00000290378.6:c.687G= (ACTC1) MANE Select | ENSP00000290378.4:p.Met229= | |
| ENST00000647798.1:n.781G= (ACTC1) | ||
| ENST00000650163.1:n.767G= (ACTC1) | ||
| ENST00000290378.4:c.687G= (ACTC1) | ENSP00000290378.4:p.Met229= | |
| ENST00000557860.1:n.377G= (ACTC1) | ||
| ENST00000560563.1:n.186G= (ACTC1) | ||
| NM_005159.4:c.687G= , LRG_388t1:c.687G= (ACTC1) | NP_005150.1:p.Met229= | |
| NR_120329.1:n.299+14780C= (GJD2-DT) | ||
| NM_005159.5:c.687G= (ACTC1) MANE Select | NP_005150.1:p.Met229= |