Linked Data
ClinVar Variation Id:
387921
dbSNP Id:
rs201673771
ExAC:
2:73827844 G / A
gnomAD v2:
2-73827844-G-A
gnomAD v3:
2-73600717-G-A
gnomAD v4:
2-73600717-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73600717G>A , CM000664.2:g.73600717G>A | GRCh38 |
| NC_000002.11:g.73827844G>A , CM000664.1:g.73827844G>A | GRCh37 |
| NC_000002.10:g.73681352G>A | NCBI36 |
| NG_011690.1:g.219965G>A , LRG_741:g.219965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11327G>A | ENSP00000507671.1:p.Arg3776Gln | |
| ENST00000682801.1:c.11167-1468G>A | ENSP00000507862.1:n.11167-1468G>A | |
| ENST00000682859.1:c.11327G>A | ENSP00000508222.1:p.Arg3776Gln | |
| ENST00000683791.1:c.4413G>A | ||
| ENST00000684460.1:c.8608G>A | ||
| ENST00000684548.1:c.11327G>A | ENSP00000507421.1:p.Arg3776Gln | |
| ENST00000684590.1:c.5774G>A | ENSP00000507376.1:p.Arg1925Gln | |
| ENST00000684656.1:c.8792G>A | ||
| ENST00000613296.6:c.11708G>A MANE Select | ENSP00000482968.1:p.Arg3903Gln | |
| ENST00000651057.1:c.1862G>A | ENSP00000498504.1:p.Arg621Gln | |
| ENST00000651434.1:c.3064G>A | ||
| ENST00000651750.1:c.1096G>A | ||
| ENST00000652487.1:c.2879G>A | ||
| ENST00000484298.5:c.11582G>A | ENSP00000478155.1:p.Arg3861Gln | |
| ENST00000613296.4:c.11708G>A | ENSP00000482968.1:p.Arg3903Gln | |
| ENST00000620466.4:n.5511G>A | ||
| NM_015120.4:c.11711G>A , LRG_741t1:c.11711G>A | NP_055935.4:p.Arg3904Gln | |
| NM_001378454.1:c.11708G>A MANE Select | NP_001365383.1:p.Arg3903Gln |