Linked Data
ClinVar Variation Id:
1506536
ClinVar RCV Id:
RCV002006805
dbSNP Id:
rs1411622351
gnomAD v2:
12-12870782-C-A
gnomAD v4:
12-12717848-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717848C>A , CM000674.2:g.12717848C>A | GRCh38 |
| NC_000012.11:g.12870782C>A , CM000674.1:g.12870782C>A | GRCh37 |
| NC_000012.10:g.12762049C>A | NCBI36 |
| NG_016341.1:g.5481C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.9C>A | ENSP00000507272.1:p.Asn3Lys | |
| ENST00000682620.1:n.1631-977C>A | ||
| ENST00000684771.1:n.585-977C>A | ||
| ENST00000228872.9:c.9C>A MANE Select | ENSP00000228872.4:p.Asn3Lys | |
| ENST00000228872.8:c.9C>A | ENSP00000228872.4:p.Asn3Lys | |
| ENST00000396340.1:c.9C>A | ENSP00000379629.1:p.Asn3Lys | |
| ENST00000477087.1:n.155-977C>A | ||
| NM_004064.4:c.9C>A | NP_004055.1:p.Asn3Lys | |
| NM_004064.5:c.9C>A MANE Select | NP_004055.1:p.Asn3Lys |