Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792536T>A , CM000677.2:g.34792536T>A | GRCh38 |
| NC_000015.9:g.35084737T>A , CM000677.1:g.35084737T>A | GRCh37 |
| NC_000015.8:g.32872029T>A | NCBI36 |
| NG_007553.1:g.8191A>T , LRG_388:g.8191A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.594A>T (ACTC1) | ||
| ENST00000290378.6:c.488A>T (ACTC1) MANE Select | ENSP00000290378.4:p.His163Leu | |
| ENST00000647798.1:n.582A>T (ACTC1) | ||
| ENST00000648556.1:n.645A>T (ACTC1) | ||
| ENST00000650163.1:n.568A>T (ACTC1) | ||
| ENST00000290378.4:c.488A>T (ACTC1) | ENSP00000290378.4:p.His163Leu | |
| ENST00000557860.1:n.178A>T (ACTC1) | ||
| NM_005159.4:c.488A>T , LRG_388t1:c.488A>T (ACTC1) | NP_005150.1:p.His163Leu | |
| NR_120329.1:n.299+15105T>A (GJD2-DT) | ||
| NM_005159.5:c.488A>T (ACTC1) MANE Select | NP_005150.1:p.His163Leu |