Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794742A>T , CM000677.2:g.34794742A>T | GRCh38 |
| NC_000015.9:g.35086943A>T , CM000677.1:g.35086943A>T | GRCh37 |
| NC_000015.8:g.32874235A>T | NCBI36 |
| NG_007553.1:g.5985T>A , LRG_388:g.5985T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.5:c.67T>A (ACTC1) MANE Select | NP_005150.1:p.Phe23Ile |
| ENST00000290378.6:c.67T>A (ACTC1) MANE Select | ENSP00000290378.4:p.Phe23Ile |
| NM_005159.4:c.67T>A , LRG_388t1:c.67T>A (ACTC1) | NP_005150.1:p.Phe23Ile |
| NR_120329.1:n.300-15754A>T (GJD2-DT) | |
| ENST00000290378.4:c.67T>A (ACTC1) | ENSP00000290378.4:p.Phe23Ile |
| ENST00000560563.2:n.173T>A (ACTC1) |