Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794740A>C , CM000677.2:g.34794740A>C | GRCh38 |
| NC_000015.9:g.35086941A>C , CM000677.1:g.35086941A>C | GRCh37 |
| NC_000015.8:g.32874233A>C | NCBI36 |
| NG_007553.1:g.5987T>G , LRG_388:g.5987T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.5:c.69T>G (ACTC1) MANE Select | NP_005150.1:p.Phe23Leu |
| ENST00000290378.6:c.69T>G (ACTC1) MANE Select | ENSP00000290378.4:p.Phe23Leu |
| NM_005159.4:c.69T>G , LRG_388t1:c.69T>G (ACTC1) | NP_005150.1:p.Phe23Leu |
| NR_120329.1:n.300-15756A>C (GJD2-DT) | |
| ENST00000290378.4:c.69T>G (ACTC1) | ENSP00000290378.4:p.Phe23Leu |
| ENST00000560563.2:n.175T>G (ACTC1) |