Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791243A>G , CM000677.2:g.34791243A>G | GRCh38 |
| NC_000015.9:g.35083444A>G , CM000677.1:g.35083444A>G | GRCh37 |
| NC_000015.8:g.32870736A>G | NCBI36 |
| NG_007553.1:g.9484T>C , LRG_388:g.9484T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.5:c.861T>C (ACTC1) MANE Select | NP_005150.1:p.Cys287= |
| ENST00000290378.6:c.861T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Cys287= |
| NM_005159.4:c.861T>C , LRG_388t1:c.861T>C (ACTC1) | NP_005150.1:p.Cys287= |
| NR_120329.1:n.299+13812A>G (GJD2-DT) | |
| ENST00000290378.4:c.861T>C (ACTC1) | ENSP00000290378.4:p.Cys287= |
| ENST00000557860.1:n.551T>C (ACTC1) | |
| ENST00000560563.2:n.1761T>C (ACTC1) | |
| ENST00000647798.1:n.955T>C (ACTC1) | |
| ENST00000650163.1:n.941T>C (ACTC1) |