Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790137C= , CM000677.2:g.34790137C= | GRCh38 |
| NC_000015.9:g.35082338C= , CM000677.1:g.35082338C= | GRCh37 |
| NC_000015.8:g.32869630C= | NCBI36 |
| NG_007553.1:g.10590G= , LRG_388:g.10590G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2309G= (ACTC1) | ||
| ENST00000290378.4:c.*275G= (ACTC1) | ENSP00000290378.4:n.*275G= | |
| NM_005159.4:c.*275G= , LRG_388t1:c.*275G= (ACTC1) | NP_005150.1:n.*275G= | |
| NR_120329.1:n.299+12706C= (GJD2-DT) |