Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793451T>A , CM000677.2:g.34793451T>A | GRCh38 |
| NC_000015.9:g.35085652T>A , CM000677.1:g.35085652T>A | GRCh37 |
| NC_000015.8:g.32872944T>A | NCBI36 |
| NG_007553.1:g.7276A>T , LRG_388:g.7276A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.354A>T (ACTC1) | ||
| ENST00000290378.6:c.248A>T (ACTC1) MANE Select | ENSP00000290378.4:p.Asp83Val | |
| ENST00000647798.1:n.395A>T (ACTC1) | ||
| ENST00000648556.1:n.405A>T (ACTC1) | ||
| ENST00000650163.1:n.328A>T (ACTC1) | ||
| ENST00000290378.4:c.248A>T (ACTC1) | ENSP00000290378.4:p.Asp83Val | |
| NM_005159.4:c.248A>T , LRG_388t1:c.248A>T (ACTC1) | NP_005150.1:p.Asp83Val | |
| NR_120329.1:n.299+16020T>A (GJD2-DT) | ||
| NM_005159.5:c.248A>T (ACTC1) MANE Select | NP_005150.1:p.Asp83Val |