Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793268A>C , CM000677.2:g.34793268A>C | GRCh38 |
| NC_000015.9:g.35085469A>C , CM000677.1:g.35085469A>C | GRCh37 |
| NC_000015.8:g.32872761A>C | NCBI36 |
| NG_007553.1:g.7459T>G , LRG_388:g.7459T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.537T>G (ACTC1) | ||
| ENST00000290378.6:c.431T>G (ACTC1) MANE Select | ENSP00000290378.4:p.Leu144Arg | |
| ENST00000647798.1:n.548+30T>G (ACTC1) | ||
| ENST00000648556.1:n.588T>G (ACTC1) | ||
| ENST00000650163.1:n.511T>G (ACTC1) | ||
| ENST00000290378.4:c.431T>G (ACTC1) | ENSP00000290378.4:p.Leu144Arg | |
| NM_005159.4:c.431T>G , LRG_388t1:c.431T>G (ACTC1) | NP_005150.1:p.Leu144Arg | |
| NR_120329.1:n.299+15837A>C (GJD2-DT) | ||
| NM_005159.5:c.431T>G (ACTC1) MANE Select | NP_005150.1:p.Leu144Arg |