Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793405C>A , CM000677.2:g.34793405C>A | GRCh38 |
| NC_000015.9:g.35085606C>A , CM000677.1:g.35085606C>A | GRCh37 |
| NC_000015.8:g.32872898C>A | NCBI36 |
| NG_007553.1:g.7322G>T , LRG_388:g.7322G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.5:c.294G>T (ACTC1) MANE Select | NP_005150.1:p.Val98= |
| ENST00000290378.6:c.294G>T (ACTC1) MANE Select | ENSP00000290378.4:p.Val98= |
| NM_005159.4:c.294G>T , LRG_388t1:c.294G>T (ACTC1) | NP_005150.1:p.Val98= |
| NR_120329.1:n.299+15974C>A (GJD2-DT) | |
| ENST00000290378.4:c.294G>T (ACTC1) | ENSP00000290378.4:p.Val98= |
| ENST00000560563.2:n.400G>T (ACTC1) | |
| ENST00000647798.1:n.441G>T (ACTC1) | |
| ENST00000648556.1:n.451G>T (ACTC1) | |
| ENST00000650163.1:n.374G>T (ACTC1) |