Linked Data
ClinVar Variation Id:
469608
ClinVar RCV Id:
RCV000541350
dbSNP Id:
rs781197146
ExAC:
1:11907195 C / T
gnomAD v2:
1-11907195-C-T
gnomAD v3:
1-11847138-C-T
gnomAD v4:
1-11847138-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847138C>T , CM000663.2:g.11847138C>T | GRCh38 |
| NC_000001.10:g.11907195C>T , CM000663.1:g.11907195C>T | GRCh37 |
| NC_000001.9:g.11829782C>T | NCBI36 |
| NG_012926.1:g.5646G>A , LRG_751:g.5646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-439C>T (CLCN6) | ENSP00000496938.1:n.*1962-439C>T | |
| ENST00000446542.5:n.782-296C>T (NPPA-AS1) | ||
| ENST00000376476.1:c.275G>A (NPPA) | ENSP00000365659.1:p.Ser92Asn | |
| ENST00000376480.7:c.425G>A (NPPA) MANE Select | ENSP00000365663.3:p.Ser142Asn | |
| ENST00000610706.1:c.425G>A (NPPA) | ENSP00000483195.1:p.Ser142Asn | |
| NM_006172.3:c.425G>A , LRG_751t1:c.425G>A (NPPA) | NP_006163.1:p.Ser142Asn | |
| NR_037806.1:n.1480-296C>T (NPPA-AS1) | ||
| NM_006172.4:c.425G>A (NPPA) MANE Select | NP_006163.1:p.Ser142Asn |