Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790188C>G , CM000677.2:g.34790188C>G | GRCh38 |
| NC_000015.9:g.35082389C>G , CM000677.1:g.35082389C>G | GRCh37 |
| NC_000015.8:g.32869681C>G | NCBI36 |
| NG_007553.1:g.10539G>C , LRG_388:g.10539G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.4:c.*224G>C , LRG_388t1:c.*224G>C (ACTC1) | NP_005150.1:n.*224G>C |
| NR_120329.1:n.299+12757C>G (GJD2-DT) | |
| ENST00000290378.4:c.*224G>C (ACTC1) | ENSP00000290378.4:n.*224G>C |
| ENST00000560563.2:n.2258G>C (ACTC1) |