Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790579C>T , CM000677.2:g.34790579C>T | GRCh38 |
| NC_000015.9:g.35082780C>T , CM000677.1:g.35082780C>T | GRCh37 |
| NC_000015.8:g.32870072C>T | NCBI36 |
| NG_007553.1:g.10148G>A , LRG_388:g.10148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.1891-24G>A (ACTC1) | ||
| ENST00000290378.6:c.991-24G>A (ACTC1) MANE Select | ENSP00000290378.4:n.991-24G>A | |
| ENST00000647798.1:n.1085-24G>A (ACTC1) | ||
| ENST00000650163.1:n.1071-24G>A (ACTC1) | ||
| ENST00000290378.4:c.991-24G>A (ACTC1) | ENSP00000290378.4:n.991-24G>A | |
| NM_005159.4:c.991-24G>A , LRG_388t1:c.991-24G>A (ACTC1) | NP_005150.1:n.991-24G>A | |
| NR_120329.1:n.299+13148C>T (GJD2-DT) | ||
| NM_005159.5:c.991-24G>A (ACTC1) MANE Select | NP_005150.1:n.991-24G>A |