Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789182G>A , CM000677.2:g.34789182G>A | GRCh38 |
| NC_000015.9:g.35081383G>A , CM000677.1:g.35081383G>A | GRCh37 |
| NC_000015.8:g.32868675G>A | NCBI36 |
| NG_007553.1:g.11545C>T , LRG_388:g.11545C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.4:c.*1230C>T , LRG_388t1:c.*1230C>T (ACTC1) | NP_005150.1:n.*1230C>T |
| NR_120329.1:n.299+11751G>A (GJD2-DT) | |
| ENST00000290378.4:c.*1230C>T (ACTC1) | ENSP00000290378.4:n.*1230C>T |