Linked Data
ClinVar Variation Id:
1091
dbSNP Id:
rs267606823
ExAC:
14:76090982 C / G
gnomAD v2:
14-76090982-C-G
gnomAD v3:
14-75624639-C-G
gnomAD v4:
14-75624639-C-G
PubMed:
PMID:20206334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75624639C>G , CM000676.2:g.75624639C>G | GRCh38 |
| NC_000014.8:g.76090982C>G , CM000676.1:g.76090982C>G | GRCh37 |
| NC_000014.7:g.75160735C>G | NCBI36 |
| NG_027694.1:g.51043C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238667.9:c.839C>G MANE Select | ENSP00000238667.4:p.Pro280Arg | |
| ENST00000238667.8:c.839C>G | ENSP00000238667.4:p.Pro280Arg | |
| ENST00000539311.5:c.224C>G | ENSP00000443439.1:p.Pro75Arg | |
| ENST00000553341.5:c.55+2419C>G | ENSP00000452584.1:n.55+2419C>G | |
| ENST00000553587.5:c.83C>G | ENSP00000451603.1:p.Pro28Arg | |
| ENST00000554496.1:n.187-21762C>G | ||
| ENST00000555058.5:c.83C>G | ENSP00000451104.1:p.Pro28Arg | |
| ENST00000555385.1:n.59-38416C>G | ||
| ENST00000556241.5:n.191C>G | ||
| ENST00000556856.1:c.83C>G | ENSP00000452468.1:p.Pro28Arg | |
| NM_001195283.1:c.224C>G | NP_001182212.1:p.Pro75Arg | |
| NM_017791.2:c.839C>G | NP_060261.2:p.Pro280Arg | |
| NM_017791.3:c.839C>G MANE Select | NP_060261.2:p.Pro280Arg | |
| NM_001195283.2:c.224C>G | NP_001182212.1:p.Pro75Arg |