Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790549C= , CM000677.2:g.34790549C= | GRCh38 |
| NC_000015.9:g.35082750C= , CM000677.1:g.35082750C= | GRCh37 |
| NC_000015.8:g.32870042C= | NCBI36 |
| NG_007553.1:g.10178G= , LRG_388:g.10178G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.5:c.997G= (ACTC1) MANE Select | NP_005150.1:p.Ala333= |
| ENST00000290378.6:c.997G= (ACTC1) MANE Select | ENSP00000290378.4:p.Ala333= |
| NM_005159.4:c.997G= , LRG_388t1:c.997G= (ACTC1) | NP_005150.1:p.Ala333= |
| NR_120329.1:n.299+13118C= (GJD2-DT) | |
| ENST00000290378.4:c.997G= (ACTC1) | ENSP00000290378.4:p.Ala333= |
| ENST00000560563.2:n.1897G= (ACTC1) | |
| ENST00000647798.1:n.1091G= (ACTC1) | |
| ENST00000650163.1:n.1077G= (ACTC1) |