Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794653G>A , CM000677.2:g.34794653G>A | GRCh38 |
| NC_000015.9:g.35086854G>A , CM000677.1:g.35086854G>A | GRCh37 |
| NC_000015.8:g.32874146G>A | NCBI36 |
| NG_007553.1:g.6074C>T , LRG_388:g.6074C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.235+27C>T (ACTC1) | ||
| ENST00000290378.6:c.129+27C>T (ACTC1) MANE Select | ENSP00000290378.4:n.129+27C>T | |
| ENST00000290378.4:c.129+27C>T (ACTC1) | ENSP00000290378.4:n.129+27C>T | |
| NM_005159.4:c.129+27C>T , LRG_388t1:c.129+27C>T (ACTC1) | NP_005150.1:n.129+27C>T | |
| NR_120329.1:n.300-15843G>A (GJD2-DT) | ||
| NM_005159.5:c.129+27C>T (ACTC1) MANE Select | NP_005150.1:n.129+27C>T |