Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843459C= , CM000663.2:g.11843459C= | GRCh38 |
| NC_000001.10:g.11903516C= , CM000663.1:g.11903516C= | GRCh37 |
| NC_000001.9:g.11826103C= | NCBI36 |
| NG_008766.1:g.42310C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1402-275C= (CLCN6) | ENSP00000496938.1:n.*1402-275C= | |
| ENST00000446542.5:n.192-245C= (NPPA-AS1) | ||
| NR_037806.1:n.890-245C= (NPPA-AS1) |