Linked Data
ClinVar Variation Id:
2803679
ClinVar RCV Id:
RCV003631576
dbSNP Id:
rs757501347
ExAC:
1:11907632 A / G
gnomAD v2:
1-11907632-A-G
gnomAD v3:
1-11847575-A-G
gnomAD v4:
1-11847575-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847575A>G , CM000663.2:g.11847575A>G | GRCh38 |
| NC_000001.10:g.11907632A>G , CM000663.1:g.11907632A>G | GRCh37 |
| NC_000001.9:g.11830219A>G | NCBI36 |
| NG_012926.1:g.5209T>C , LRG_751:g.5209T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-2A>G (CLCN6) | ENSP00000496938.1:n.*1962-2A>G | |
| ENST00000446542.5:n.923A>G (NPPA-AS1) | ||
| ENST00000376476.1:c.-27-136T>C (NPPA) | ENSP00000365659.1:n.-27-136T>C | |
| ENST00000376480.7:c.110T>C (NPPA) MANE Select | ENSP00000365663.3:p.Leu37Pro | |
| ENST00000610706.1:c.110T>C (NPPA) | ENSP00000483195.1:p.Leu37Pro | |
| NM_006172.3:c.110T>C , LRG_751t1:c.110T>C (NPPA) | NP_006163.1:p.Leu37Pro | |
| NR_037806.1:n.1621A>G (NPPA-AS1) | ||
| NM_006172.4:c.110T>C (NPPA) MANE Select | NP_006163.1:p.Leu37Pro |