Linked Data
ClinVar Variation Id:
126847
ClinVar RCV Id:
RCV002498490
dbSNP Id:
rs61757261
ExAC:
1:11907430 T / G
gnomAD v2:
1-11907430-T-G
gnomAD v3:
1-11847373-T-G
gnomAD v4:
1-11847373-T-G
PubMed:
PMID:19646991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847373T>G , CM000663.2:g.11847373T>G | GRCh38 |
| NC_000001.10:g.11907430T>G , CM000663.1:g.11907430T>G | GRCh37 |
| NC_000001.9:g.11830017T>G | NCBI36 |
| NG_012926.1:g.5411A>C , LRG_751:g.5411A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1962-204T>G (CLCN6) | ENSP00000496938.1:n.*1962-204T>G | |
| ENST00000446542.5:n.782-61T>G (NPPA-AS1) | ||
| ENST00000376476.1:c.40A>C (NPPA) | ENSP00000365659.1:p.Ser14Arg | |
| ENST00000376480.7:c.190A>C (NPPA) MANE Select | ENSP00000365663.3:p.Ser64Arg | |
| ENST00000610706.1:c.190A>C (NPPA) | ENSP00000483195.1:p.Ser64Arg | |
| NM_006172.3:c.190A>C , LRG_751t1:c.190A>C (NPPA) | NP_006163.1:p.Ser64Arg | |
| NR_037806.1:n.1480-61T>G (NPPA-AS1) | ||
| NM_006172.4:c.190A>C (NPPA) MANE Select | NP_006163.1:p.Ser64Arg |