Linked Data
gnomAD v4:
15-34790004-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790004C>G , CM000677.2:g.34790004C>G | GRCh38 |
| NC_000015.9:g.35082205C>G , CM000677.1:g.35082205C>G | GRCh37 |
| NC_000015.8:g.32869497C>G | NCBI36 |
| NG_007553.1:g.10723G>C , LRG_388:g.10723G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*408G>C (ACTC1) | ENSP00000290378.4:n.*408G>C | |
| NM_005159.4:c.*408G>C , LRG_388t1:c.*408G>C (ACTC1) | NP_005150.1:n.*408G>C | |
| NR_120329.1:n.299+12573C>G (GJD2-DT) |