Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790458T>A , CM000677.2:g.34790458T>A | GRCh38 |
| NC_000015.9:g.35082659T>A , CM000677.1:g.35082659T>A | GRCh37 |
| NC_000015.8:g.32869951T>A | NCBI36 |
| NG_007553.1:g.10269A>T , LRG_388:g.10269A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.5:c.1088A>T (ACTC1) MANE Select | NP_005150.1:p.Glu363Val |
| ENST00000290378.6:c.1088A>T (ACTC1) MANE Select | ENSP00000290378.4:p.Glu363Val |
| NM_005159.4:c.1088A>T , LRG_388t1:c.1088A>T (ACTC1) | NP_005150.1:p.Glu363Val |
| NR_120329.1:n.299+13027T>A (GJD2-DT) | |
| ENST00000290378.4:c.1088A>T (ACTC1) | ENSP00000290378.4:p.Glu363Val |
| ENST00000560563.2:n.1988A>T (ACTC1) | |
| ENST00000647798.1:n.1182A>T (ACTC1) | |
| ENST00000650163.1:n.1168A>T (ACTC1) |