Linked Data
gnomAD v4:
15-34789799-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789799T>C , CM000677.2:g.34789799T>C | GRCh38 |
| NC_000015.9:g.35082000T>C , CM000677.1:g.35082000T>C | GRCh37 |
| NC_000015.8:g.32869292T>C | NCBI36 |
| NG_007553.1:g.10928A>G , LRG_388:g.10928A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*613A>G (ACTC1) | ENSP00000290378.4:n.*613A>G | |
| NM_005159.4:c.*613A>G , LRG_388t1:c.*613A>G (ACTC1) | NP_005150.1:n.*613A>G | |
| NR_120329.1:n.299+12368T>C (GJD2-DT) |