gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52622079 (AFR)
Genomes Max Group AF
0.52622079 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11844019T>C , CM000663.2:g.11844019T>C | GRCh38 |
| NC_000001.10:g.11904076T>C , CM000663.1:g.11904076T>C | GRCh37 |
| NC_000001.9:g.11826663T>C | NCBI36 |
| NG_008766.1:g.42870T>C | |
| NG_012926.1:g.8765A>G , LRG_751:g.8765A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1687T>C (CLCN6) | ENSP00000496938.1:n.*1687T>C | |
| ENST00000446542.5:n.507T>C (NPPA-AS1) | ||
| NR_037806.1:n.1205T>C (NPPA-AS1) |