Linked Data
dbSNP Id:
rs376688623
gnomAD v2:
1-11903851-T-A
gnomAD v3:
1-11843794-T-A
gnomAD v4:
1-11843794-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843794T>A , CM000663.2:g.11843794T>A | GRCh38 |
| NC_000001.10:g.11903851T>A , CM000663.1:g.11903851T>A | GRCh37 |
| NC_000001.9:g.11826438T>A | NCBI36 |
| NG_008766.1:g.42645T>A | |
| NG_012926.1:g.8990A>T , LRG_751:g.8990A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1462T>A (CLCN6) | ENSP00000496938.1:n.*1462T>A | |
| ENST00000446542.5:n.282T>A (NPPA-AS1) | ||
| NR_037806.1:n.980T>A (NPPA-AS1) |