Linked Data
ClinVar Variation Id:
129399
ClinVar RCV Id:
RCV000117406
RCV000275235
RCV000355892
RCV001173390
RCV001711203
RCV001730548
RCV001730547
dbSNP Id:
rs12402052
ExAC:
1:10318652 C / G
gnomAD v2:
1-10318652-C-G
gnomAD v3:
1-10258594-C-G
gnomAD v4:
1-10258594-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10258594C>G , CM000663.2:g.10258594C>G | GRCh38 |
| NC_000001.10:g.10318652C>G , CM000663.1:g.10318652C>G | GRCh37 |
| NC_000001.9:g.10241239C>G | NCBI36 |
| NG_008069.1:g.52889C>G , LRG_252:g.52889C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696500.1:c.285C>G | ENSP00000512666.1:p.Ala95= | |
| ENST00000696501.1:c.285C>G | ENSP00000512667.1:p.Ala95= | |
| ENST00000696502.1:c.285C>G | ENSP00000512668.1:p.Ala95= | |
| ENST00000696503.1:c.285C>G | ENSP00000512669.1:p.Ala95= | |
| ENST00000696504.1:c.285C>G | ENSP00000512670.1:p.Ala95= | |
| ENST00000696506.1:c.285C>G | ENSP00000512672.1:p.Ala95= | |
| ENST00000377093.9:c.285C>G | ENSP00000366297.4:p.Ala95= | |
| ENST00000676179.1:c.285C>G MANE Select | ENSP00000502065.1:p.Ala95= | |
| ENST00000263934.10:c.285C>G | ENSP00000263934.6:p.Ala95= | |
| ENST00000377081.5:c.285C>G | ENSP00000366284.1:p.Ala95= | |
| ENST00000377083.5:c.285C>G | ENSP00000366287.1:p.Ala95= | |
| ENST00000377086.5:c.285C>G | ENSP00000366290.1:p.Ala95= | |
| ENST00000377093.8:c.285C>G | ENSP00000366297.4:p.Ala95= | |
| ENST00000620295.2:c.285C>G | ENSP00000478500.1:p.Ala95= | |
| ENST00000622724.3:c.285C>G | ENSP00000480063.1:p.Ala95= | |
| NM_015074.3:c.285C>G , LRG_252t1:c.285C>G | NP_055889.2:p.Ala95= | |
| NM_183416.3:c.285C>G | NP_904325.2:p.Ala95= | |
| NM_001365951.1:c.285C>G | NP_001352880.1:p.Ala95= | |
| NM_001365952.1:c.285C>G | NP_001352881.1:p.Ala95= | |
| NM_001365953.1:c.285C>G | NP_001352882.1:p.Ala95= | |
| NM_001365951.3:c.285C>G MANE Select | NP_001352880.1:p.Ala95= | |
| NM_183416.4:c.285C>G | NP_904325.2:p.Ala95= |