Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843838C>G , CM000663.2:g.11843838C>G | GRCh38 |
| NC_000001.10:g.11903895C>G , CM000663.1:g.11903895C>G | GRCh37 |
| NC_000001.9:g.11826482C>G | NCBI36 |
| NG_008766.1:g.42689C>G | |
| NG_012926.1:g.8946G>C , LRG_751:g.8946G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1506C>G (CLCN6) | ENSP00000496938.1:n.*1506C>G | |
| ENST00000446542.5:n.326C>G (NPPA-AS1) | ||
| NR_037806.1:n.1024C>G (NPPA-AS1) |