Linked Data
ClinVar Variation Id:
1979228
ClinVar RCV Id:
RCV002766151
dbSNP Id:
rs369737600
gnomAD v2:
1-11907300-C-A
gnomAD v3:
1-11847243-C-A
gnomAD v4:
1-11847243-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847243C>A , CM000663.2:g.11847243C>A | GRCh38 |
| NC_000001.10:g.11907300C>A , CM000663.1:g.11907300C>A | GRCh37 |
| NC_000001.9:g.11829887C>A | NCBI36 |
| NG_012926.1:g.5541G>T , LRG_751:g.5541G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-334C>A (CLCN6) | ENSP00000496938.1:n.*1962-334C>A | |
| ENST00000446542.5:n.782-191C>A (NPPA-AS1) | ||
| ENST00000376476.1:c.170G>T (NPPA) | ENSP00000365659.1:p.Arg57Leu | |
| ENST00000376480.7:c.320G>T (NPPA) MANE Select | ENSP00000365663.3:p.Arg107Leu | |
| ENST00000610706.1:c.320G>T (NPPA) | ENSP00000483195.1:p.Arg107Leu | |
| NM_006172.3:c.320G>T , LRG_751t1:c.320G>T (NPPA) | NP_006163.1:p.Arg107Leu | |
| NR_037806.1:n.1480-191C>A (NPPA-AS1) | ||
| NM_006172.4:c.320G>T (NPPA) MANE Select | NP_006163.1:p.Arg107Leu |