Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11844031G>T , CM000663.2:g.11844031G>T | GRCh38 |
| NC_000001.10:g.11904088G>T , CM000663.1:g.11904088G>T | GRCh37 |
| NC_000001.9:g.11826675G>T | NCBI36 |
| NG_008766.1:g.42882G>T | |
| NG_012926.1:g.8753C>A , LRG_751:g.8753C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1699G>T (CLCN6) | ENSP00000496938.1:n.*1699G>T | |
| ENST00000446542.5:n.519G>T (NPPA-AS1) | ||
| NR_037806.1:n.1217G>T (NPPA-AS1) |