Linked Data
ClinVar Variation Id:
1376005
ClinVar RCV Id:
RCV001871167
dbSNP Id:
rs745922613
ExAC:
1:11907273 C / T
gnomAD v2:
1-11907273-C-T
gnomAD v3:
1-11847216-C-T
gnomAD v4:
1-11847216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847216C>T , CM000663.2:g.11847216C>T | GRCh38 |
| NC_000001.10:g.11907273C>T , CM000663.1:g.11907273C>T | GRCh37 |
| NC_000001.9:g.11829860C>T | NCBI36 |
| NG_012926.1:g.5568G>A , LRG_751:g.5568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-361C>T (CLCN6) | ENSP00000496938.1:n.*1962-361C>T | |
| ENST00000446542.5:n.782-218C>T (NPPA-AS1) | ||
| ENST00000376476.1:c.197G>A (NPPA) | ENSP00000365659.1:p.Arg66Lys | |
| ENST00000376480.7:c.347G>A (NPPA) MANE Select | ENSP00000365663.3:p.Arg116Lys | |
| ENST00000610706.1:c.347G>A (NPPA) | ENSP00000483195.1:p.Arg116Lys | |
| NM_006172.3:c.347G>A , LRG_751t1:c.347G>A (NPPA) | NP_006163.1:p.Arg116Lys | |
| NR_037806.1:n.1480-218C>T (NPPA-AS1) | ||
| NM_006172.4:c.347G>A (NPPA) MANE Select | NP_006163.1:p.Arg116Lys |