Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843981C>G , CM000663.2:g.11843981C>G | GRCh38 |
| NC_000001.10:g.11904038C>G , CM000663.1:g.11904038C>G | GRCh37 |
| NC_000001.9:g.11826625C>G | NCBI36 |
| NG_008766.1:g.42832C>G | |
| NG_012926.1:g.8803G>C , LRG_751:g.8803G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1649C>G (CLCN6) | ENSP00000496938.1:n.*1649C>G | |
| ENST00000446542.5:n.469C>G (NPPA-AS1) | ||
| NR_037806.1:n.1167C>G (NPPA-AS1) |