Linked Data
ClinVar Variation Id:
2998563
ClinVar RCV Id:
RCV003859210
dbSNP Id:
rs1645074158
gnomAD v3:
1-11847128-G-A
gnomAD v4:
1-11847128-G-A
MyVariant Identifiers:
chr1:g.11907185G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847128G>A , CM000663.2:g.11847128G>A | GRCh38 |
| NC_000001.10:g.11907185G>A , CM000663.1:g.11907185G>A | GRCh37 |
| NC_000001.9:g.11829772G>A | NCBI36 |
| NG_012926.1:g.5656C>T , LRG_751:g.5656C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-449G>A (CLCN6) | ENSP00000496938.1:n.*1962-449G>A | |
| ENST00000446542.5:n.782-306G>A (NPPA-AS1) | ||
| ENST00000376476.1:c.285C>T (NPPA) | ENSP00000365659.1:p.Gly95= | |
| ENST00000376480.7:c.435C>T (NPPA) MANE Select | ENSP00000365663.3:p.Gly145= | |
| ENST00000610706.1:c.435C>T (NPPA) | ENSP00000483195.1:p.Gly145= | |
| NM_006172.3:c.435C>T , LRG_751t1:c.435C>T (NPPA) | NP_006163.1:p.Gly145= | |
| NR_037806.1:n.1480-306G>A (NPPA-AS1) | ||
| NM_006172.4:c.435C>T (NPPA) MANE Select | NP_006163.1:p.Gly145= |