Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34788120G>A , CM000677.2:g.34788120G>A | GRCh38 |
| NC_000015.9:g.35080321G>A , CM000677.1:g.35080321G>A | GRCh37 |
| NC_000015.8:g.32867613G>A | NCBI36 |
| NG_007553.1:g.12607C>T , LRG_388:g.12607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*2292C>T (ACTC1) | ENSP00000290378.4:n.*2292C>T | |
| NM_005159.4:c.*2292C>T , LRG_388t1:c.*2292C>T (ACTC1) | NP_005150.1:n.*2292C>T | |
| NR_120329.1:n.299+10689G>A (GJD2-DT) |