Linked Data
ClinVar Variation Id:
476788
dbSNP Id:
rs774464311
ExAC:
1:10435029 C / G
gnomAD v2:
1-10435029-C-G
gnomAD v3:
1-10374971-C-G
gnomAD v4:
1-10374971-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10374971C>G , CM000663.2:g.10374971C>G | GRCh38 |
| NC_000001.10:g.10435029C>G , CM000663.1:g.10435029C>G | GRCh37 |
| NC_000001.9:g.10357616C>G | NCBI36 |
| NG_008069.1:g.169266C>G , LRG_252:g.169266C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.5277C>G | ENSP00000512668.1:p.Asp1759Glu | |
| ENST00000696503.1:c.5139C>G | ENSP00000512669.1:p.Asp1713Glu | |
| ENST00000696504.1:c.5139C>G | ENSP00000512670.1:p.Asp1713Glu | |
| ENST00000676179.1:c.5214C>G MANE Select | ENSP00000502065.1:p.Asp1738Glu | |
| ENST00000263934.10:c.5076C>G | ENSP00000263934.6:p.Asp1692Glu | |
| ENST00000377081.5:c.5214C>G | ENSP00000366284.1:p.Asp1738Glu | |
| ENST00000377086.5:c.5214C>G | ENSP00000366290.1:p.Asp1738Glu | |
| ENST00000620295.2:c.5172C>G | ENSP00000478500.1:p.Asp1724Glu | |
| ENST00000622724.3:c.5136C>G | ENSP00000480063.1:p.Asp1712Glu | |
| ENST00000635499.1:c.1259C>G | ||
| NM_015074.3:c.5076C>G , LRG_252t1:c.5076C>G | NP_055889.2:p.Asp1692Glu | |
| NM_001365951.1:c.5214C>G | NP_001352880.1:p.Asp1738Glu | |
| NM_001365952.1:c.5214C>G | NP_001352881.1:p.Asp1738Glu | |
| NM_001365951.3:c.5214C>G MANE Select | NP_001352880.1:p.Asp1738Glu |