Linked Data
ClinVar Variation Id:
1399897
ClinVar RCV Id:
RCV001917910
dbSNP Id:
rs763172985
ExAC:
1:11907629 A / C
gnomAD v2:
1-11907629-A-C
gnomAD v4:
1-11847572-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847572A>C , CM000663.2:g.11847572A>C | GRCh38 |
| NC_000001.10:g.11907629A>C , CM000663.1:g.11907629A>C | GRCh37 |
| NC_000001.9:g.11830216A>C | NCBI36 |
| NG_012926.1:g.5212T>G , LRG_751:g.5212T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-5A>C (CLCN6) | ENSP00000496938.1:n.*1962-5A>C | |
| ENST00000446542.5:n.920A>C (NPPA-AS1) | ||
| ENST00000376476.1:c.-27-133T>G (NPPA) | ENSP00000365659.1:n.-27-133T>G | |
| ENST00000376480.7:c.113T>G (NPPA) MANE Select | ENSP00000365663.3:p.Met38Arg | |
| ENST00000610706.1:c.113T>G (NPPA) | ENSP00000483195.1:p.Met38Arg | |
| NM_006172.3:c.113T>G , LRG_751t1:c.113T>G (NPPA) | NP_006163.1:p.Met38Arg | |
| NR_037806.1:n.1618A>C (NPPA-AS1) | ||
| NM_006172.4:c.113T>G (NPPA) MANE Select | NP_006163.1:p.Met38Arg |