Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843922C>A , CM000663.2:g.11843922C>A | GRCh38 |
| NC_000001.10:g.11903979C>A , CM000663.1:g.11903979C>A | GRCh37 |
| NC_000001.9:g.11826566C>A | NCBI36 |
| NG_008766.1:g.42773C>A | |
| NG_012926.1:g.8862G>T , LRG_751:g.8862G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1590C>A (CLCN6) | ENSP00000496938.1:n.*1590C>A | |
| ENST00000446542.5:n.410C>A (NPPA-AS1) | ||
| NR_037806.1:n.1108C>A (NPPA-AS1) |