Linked Data
ClinVar Variation Id:
1518425
ClinVar RCV Id:
RCV002043466
dbSNP Id:
rs1645079555
gnomAD v4:
1-11847672-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847672A>G , CM000663.2:g.11847672A>G | GRCh38 |
| NC_000001.10:g.11907729A>G , CM000663.1:g.11907729A>G | GRCh37 |
| NC_000001.9:g.11830316A>G | NCBI36 |
| NG_012926.1:g.5112T>C , LRG_751:g.5112T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*2057A>G (CLCN6) | ENSP00000496938.1:n.*2057A>G | |
| ENST00000446542.5:n.1020A>G (NPPA-AS1) | ||
| ENST00000376476.1:c.-27-233T>C (NPPA) | ENSP00000365659.1:n.-27-233T>C | |
| ENST00000376480.7:c.13T>C (NPPA) MANE Select | ENSP00000365663.3:p.Ser5Pro | |
| ENST00000610706.1:c.13T>C (NPPA) | ENSP00000483195.1:p.Ser5Pro | |
| NM_006172.3:c.13T>C , LRG_751t1:c.13T>C (NPPA) | NP_006163.1:p.Ser5Pro | |
| NM_006172.4:c.13T>C (NPPA) MANE Select | NP_006163.1:p.Ser5Pro |