Linked Data
ClinVar Variation Id:
12188
ClinVar RCV Id:
RCV000012971
dbSNP Id:
rs28934880
gnomAD v2:
1-119958071-C-A
gnomAD v3:
1-119415448-C-A
gnomAD v4:
1-119415448-C-A
PubMed:
PMID:10843183
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119415448C>A , CM000663.2:g.119415448C>A | GRCh38 |
| NC_000001.10:g.119958071C>A , CM000663.1:g.119958071C>A | GRCh37 |
| NC_000001.9:g.119759594C>A | NCBI36 |
| NG_013349.1:g.5518C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.29C>A MANE Select | ENSP00000358424.3:p.Ala10Glu | |
| ENST00000369416.3:c.29C>A | ENSP00000358424.3:p.Ala10Glu | |
| ENST00000433745.5:c.29C>A | ENSP00000388292.1:p.Ala10Glu | |
| ENST00000443865.2:n.158C>A | ||
| ENST00000471656.5:n.170C>A | ||
| ENST00000543831.5:c.29C>A | ENSP00000445122.1:p.Ala10Glu | |
| NM_000198.3:c.29C>A | NP_000189.1:p.Ala10Glu | |
| NM_001166120.1:c.29C>A | NP_001159592.1:p.Ala10Glu | |
| NM_000198.4:c.29C>A MANE Select | NP_000189.1:p.Ala10Glu | |
| NM_001166120.2:c.29C>A | NP_001159592.1:p.Ala10Glu |