Linked Data
dbSNP Id:
rs555862422
gnomAD v2:
1-11903665-G-A
gnomAD v3:
1-11843608-G-A
gnomAD v4:
1-11843608-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843608G>A , CM000663.2:g.11843608G>A | GRCh38 |
| NC_000001.10:g.11903665G>A , CM000663.1:g.11903665G>A | GRCh37 |
| NC_000001.9:g.11826252G>A | NCBI36 |
| NG_008766.1:g.42459G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1402-126G>A (CLCN6) | ENSP00000496938.1:n.*1402-126G>A | |
| ENST00000446542.5:n.192-96G>A (NPPA-AS1) | ||
| NR_037806.1:n.890-96G>A (NPPA-AS1) |