Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34788425C>T , CM000677.2:g.34788425C>T | GRCh38 |
| NC_000015.9:g.35080626C>T , CM000677.1:g.35080626C>T | GRCh37 |
| NC_000015.8:g.32867918C>T | NCBI36 |
| NG_007553.1:g.12302G>A , LRG_388:g.12302G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.4:c.*1987G>A , LRG_388t1:c.*1987G>A (ACTC1) | NP_005150.1:n.*1987G>A |
| NR_120329.1:n.299+10994C>T (GJD2-DT) | |
| ENST00000290378.4:c.*1987G>A (ACTC1) | ENSP00000290378.4:n.*1987G>A |