Linked Data
ClinVar Variation Id:
1300849
dbSNP Id:
rs148044176
ExAC:
2:73799821 G / A
gnomAD v2:
2-73799821-G-A
gnomAD v3:
2-73572694-G-A
gnomAD v4:
2-73572694-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572694G>A , CM000664.2:g.73572694G>A | GRCh38 |
| NC_000002.11:g.73799821G>A , CM000664.1:g.73799821G>A | GRCh37 |
| NC_000002.10:g.73653329G>A | NCBI36 |
| NG_011690.1:g.191942G>A , LRG_741:g.191942G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10436G>A | ENSP00000507671.1:p.Arg3479Gln | |
| ENST00000682801.1:c.10436G>A | ENSP00000507862.1:p.Arg3479Gln | |
| ENST00000682859.1:c.10436G>A | ENSP00000508222.1:p.Arg3479Gln | |
| ENST00000683791.1:c.3522G>A | ||
| ENST00000684460.1:c.7717G>A | ||
| ENST00000684548.1:c.10436G>A | ENSP00000507421.1:p.Arg3479Gln | |
| ENST00000684590.1:c.4883G>A | ENSP00000507376.1:p.Arg1628Gln | |
| ENST00000684656.1:c.7762G>A | ||
| ENST00000613296.6:c.10817G>A MANE Select | ENSP00000482968.1:p.Arg3606Gln | |
| ENST00000651057.1:c.971G>A | ENSP00000498504.1:p.Arg324Gln | |
| ENST00000651434.1:c.2173G>A | ||
| ENST00000651750.1:c.205G>A | ||
| ENST00000652487.1:c.1914G>A | ||
| ENST00000423048.5:c.4308G>A | ENSP00000399833.1:n.4308G>A | |
| ENST00000484298.5:c.10691G>A | ENSP00000478155.1:p.Arg3564Gln | |
| ENST00000613296.4:c.10817G>A | ENSP00000482968.1:p.Arg3606Gln | |
| ENST00000614410.4:c.10817G>A | ENSP00000479094.1:p.Arg3606Gln | |
| ENST00000620466.4:n.4620G>A | ||
| NM_015120.4:c.10820G>A , LRG_741t1:c.10820G>A | NP_055935.4:p.Arg3607Gln | |
| NM_001378454.1:c.10817G>A MANE Select | NP_001365383.1:p.Arg3606Gln |