Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793282C>A , CM000677.2:g.34793282C>A | GRCh38 |
| NC_000015.9:g.35085483C>A , CM000677.1:g.35085483C>A | GRCh37 |
| NC_000015.8:g.32872775C>A | NCBI36 |
| NG_007553.1:g.7445G>T , LRG_388:g.7445G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.523G>T (ACTC1) | ||
| ENST00000290378.6:c.417G>T (ACTC1) MANE Select | ENSP00000290378.4:p.Gln139His | |
| ENST00000647798.1:n.548+16G>T (ACTC1) | ||
| ENST00000648556.1:n.574G>T (ACTC1) | ||
| ENST00000650163.1:n.497G>T (ACTC1) | ||
| ENST00000290378.4:c.417G>T (ACTC1) | ENSP00000290378.4:p.Gln139His | |
| NM_005159.4:c.417G>T , LRG_388t1:c.417G>T (ACTC1) | NP_005150.1:p.Gln139His | |
| NR_120329.1:n.299+15851C>A (GJD2-DT) | ||
| NM_005159.5:c.417G>T (ACTC1) MANE Select | NP_005150.1:p.Gln139His |