Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792154T= , CM000677.2:g.34792154T= | GRCh38 |
| NC_000015.9:g.35084355T= , CM000677.1:g.35084355T= | GRCh37 |
| NC_000015.8:g.32871647T= | NCBI36 |
| NG_007553.1:g.8573A= , LRG_388:g.8573A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.850A= (ACTC1) | ||
| ENST00000290378.6:c.744A= (ACTC1) MANE Select | ENSP00000290378.4:p.Gln248= | |
| ENST00000647798.1:n.838A= (ACTC1) | ||
| ENST00000650163.1:n.824A= (ACTC1) | ||
| ENST00000290378.4:c.744A= (ACTC1) | ENSP00000290378.4:p.Gln248= | |
| ENST00000557860.1:n.434A= (ACTC1) | ||
| ENST00000560563.1:n.243A= (ACTC1) | ||
| NM_005159.4:c.744A= , LRG_388t1:c.744A= (ACTC1) | NP_005150.1:p.Gln248= | |
| NR_120329.1:n.299+14723T= (GJD2-DT) | ||
| NM_005159.5:c.744A= (ACTC1) MANE Select | NP_005150.1:p.Gln248= |