Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794799C= , CM000677.2:g.34794799C= | GRCh38 |
| NC_000015.9:g.35087000C= , CM000677.1:g.35087000C= | GRCh37 |
| NC_000015.8:g.32874292C= | NCBI36 |
| NG_007553.1:g.5928G= , LRG_388:g.5928G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.5:c.10G= (ACTC1) MANE Select | NP_005150.1:p.Asp4= |
| ENST00000290378.6:c.10G= (ACTC1) MANE Select | ENSP00000290378.4:p.Asp4= |
| NM_005159.4:c.10G= , LRG_388t1:c.10G= (ACTC1) | NP_005150.1:p.Asp4= |
| NR_120329.1:n.300-15697C= (GJD2-DT) | |
| ENST00000290378.4:c.10G= (ACTC1) | ENSP00000290378.4:p.Asp4= |
| ENST00000560563.2:n.116G= (ACTC1) |