Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791113C= , CM000677.2:g.34791113C= | GRCh38 |
| NC_000015.9:g.35083314C= , CM000677.1:g.35083314C= | GRCh37 |
| NC_000015.8:g.32870606C= | NCBI36 |
| NG_007553.1:g.9614G= , LRG_388:g.9614G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.1890+1G= (ACTC1) | ||
| ENST00000290378.6:c.990+1G= (ACTC1) MANE Select | ENSP00000290378.4:n.990+1G= | |
| ENST00000647798.1:n.1084+1G= (ACTC1) | ||
| ENST00000650163.1:n.1070+1G= (ACTC1) | ||
| ENST00000290378.4:c.990+1G= (ACTC1) | ENSP00000290378.4:n.990+1G= | |
| NM_005159.4:c.990+1G= , LRG_388t1:c.990+1G= (ACTC1) | NP_005150.1:n.990+1G= | |
| NR_120329.1:n.299+13682C= (GJD2-DT) | ||
| NM_005159.5:c.990+1G= (ACTC1) MANE Select | NP_005150.1:n.990+1G= |