Linked Data
ClinVar Variation Id:
1097272
ClinVar RCV Id:
RCV001418767
dbSNP Id:
rs768567024
ExAC:
1:11907227 G / A
gnomAD v2:
1-11907227-G-A
gnomAD v3:
1-11847170-G-A
gnomAD v4:
1-11847170-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847170G>A , CM000663.2:g.11847170G>A | GRCh38 |
| NC_000001.10:g.11907227G>A , CM000663.1:g.11907227G>A | GRCh37 |
| NC_000001.9:g.11829814G>A | NCBI36 |
| NG_012926.1:g.5614C>T , LRG_751:g.5614C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-407G>A (CLCN6) | ENSP00000496938.1:n.*1962-407G>A | |
| ENST00000446542.5:n.782-264G>A (NPPA-AS1) | ||
| ENST00000376476.1:c.243C>T (NPPA) | ENSP00000365659.1:p.Phe81= | |
| ENST00000376480.7:c.393C>T (NPPA) MANE Select | ENSP00000365663.3:p.Phe131= | |
| ENST00000610706.1:c.393C>T (NPPA) | ENSP00000483195.1:p.Phe131= | |
| NM_006172.3:c.393C>T , LRG_751t1:c.393C>T (NPPA) | NP_006163.1:p.Phe131= | |
| NR_037806.1:n.1480-264G>A (NPPA-AS1) | ||
| NM_006172.4:c.393C>T (NPPA) MANE Select | NP_006163.1:p.Phe131= |