Linked Data
dbSNP Id:
rs61764036
gnomAD v2:
1-11904080-C-A
gnomAD v3:
1-11844023-C-A
gnomAD v4:
1-11844023-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11844023C>A , CM000663.2:g.11844023C>A | GRCh38 |
| NC_000001.10:g.11904080C>A , CM000663.1:g.11904080C>A | GRCh37 |
| NC_000001.9:g.11826667C>A | NCBI36 |
| NG_008766.1:g.42874C>A | |
| NG_012926.1:g.8761G>T , LRG_751:g.8761G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1691C>A (CLCN6) | ENSP00000496938.1:n.*1691C>A | |
| ENST00000446542.5:n.511C>A (NPPA-AS1) | ||
| NR_037806.1:n.1209C>A (NPPA-AS1) |