Linked Data
ClinVar Variation Id:
291469
dbSNP Id:
rs771929965
ExAC:
1:10321948 A / G
gnomAD v2:
1-10321948-A-G
gnomAD v3:
1-10261890-A-G
gnomAD v4:
1-10261890-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10261890A>G , CM000663.2:g.10261890A>G | GRCh38 |
| NC_000001.10:g.10321948A>G , CM000663.1:g.10321948A>G | GRCh37 |
| NC_000001.9:g.10244535A>G | NCBI36 |
| NG_008069.1:g.56185A>G , LRG_252:g.56185A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696500.1:c.364-15A>G | ENSP00000512666.1:n.364-15A>G | |
| ENST00000696501.1:c.364-15A>G | ENSP00000512667.1:n.364-15A>G | |
| ENST00000696502.1:c.364-15A>G | ENSP00000512668.1:n.364-15A>G | |
| ENST00000696503.1:c.364-15A>G | ENSP00000512669.1:n.364-15A>G | |
| ENST00000696504.1:c.364-15A>G | ENSP00000512670.1:n.364-15A>G | |
| ENST00000696506.1:c.*135-15A>G | ENSP00000512672.1:n.*135-15A>G | |
| ENST00000377093.9:c.364-15A>G | ENSP00000366297.4:n.364-15A>G | |
| ENST00000676179.1:c.364-15A>G MANE Select | ENSP00000502065.1:n.364-15A>G | |
| ENST00000263934.10:c.364-15A>G | ENSP00000263934.6:n.364-15A>G | |
| ENST00000377081.5:c.364-15A>G | ENSP00000366284.1:n.364-15A>G | |
| ENST00000377083.5:c.364-15A>G | ENSP00000366287.1:n.364-15A>G | |
| ENST00000377086.5:c.364-15A>G | ENSP00000366290.1:n.364-15A>G | |
| ENST00000377093.8:c.364-15A>G | ENSP00000366297.4:n.364-15A>G | |
| ENST00000620295.2:c.364-15A>G | ENSP00000478500.1:n.364-15A>G | |
| ENST00000622724.3:c.364-15A>G | ENSP00000480063.1:n.364-15A>G | |
| NM_015074.3:c.364-15A>G , LRG_252t1:c.364-15A>G | NP_055889.2:n.364-15A>G | |
| NM_183416.3:c.364-15A>G | NP_904325.2:n.364-15A>G | |
| NM_001365951.1:c.364-15A>G | NP_001352880.1:n.364-15A>G | |
| NM_001365952.1:c.364-15A>G | NP_001352881.1:n.364-15A>G | |
| NM_001365953.1:c.364-15A>G | NP_001352882.1:n.364-15A>G | |
| NM_001365951.3:c.364-15A>G MANE Select | NP_001352880.1:n.364-15A>G | |
| NM_183416.4:c.364-15A>G | NP_904325.2:n.364-15A>G |