Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843853G>A , CM000663.2:g.11843853G>A | GRCh38 |
| NC_000001.10:g.11903910G>A , CM000663.1:g.11903910G>A | GRCh37 |
| NC_000001.9:g.11826497G>A | NCBI36 |
| NG_008766.1:g.42704G>A | |
| NG_012926.1:g.8931C>T , LRG_751:g.8931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1521G>A (CLCN6) | ENSP00000496938.1:n.*1521G>A | |
| ENST00000446542.5:n.341G>A (NPPA-AS1) | ||
| NR_037806.1:n.1039G>A (NPPA-AS1) |