Linked Data
ClinVar Variation Id:
1579839
ClinVar RCV Id:
RCV002075578
dbSNP Id:
rs941150669
MyVariant Identifiers:
chr1:g.11907455A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847398A>G , CM000663.2:g.11847398A>G | GRCh38 |
| NC_000001.10:g.11907455A>G , CM000663.1:g.11907455A>G | GRCh37 |
| NC_000001.9:g.11830042A>G | NCBI36 |
| NG_012926.1:g.5386T>C , LRG_751:g.5386T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-179A>G (CLCN6) | ENSP00000496938.1:n.*1962-179A>G | |
| ENST00000446542.5:n.782-36A>G (NPPA-AS1) | ||
| ENST00000376476.1:c.15T>C (NPPA) | ENSP00000365659.1:p.Asp5= | |
| ENST00000376480.7:c.165T>C (NPPA) MANE Select | ENSP00000365663.3:p.Asp55= | |
| ENST00000610706.1:c.165T>C (NPPA) | ENSP00000483195.1:p.Asp55= | |
| NM_006172.3:c.165T>C , LRG_751t1:c.165T>C (NPPA) | NP_006163.1:p.Asp55= | |
| NR_037806.1:n.1480-36A>G (NPPA-AS1) | ||
| NM_006172.4:c.165T>C (NPPA) MANE Select | NP_006163.1:p.Asp55= |