Linked Data
ClinVar Variation Id:
459850
dbSNP Id:
rs752714698
ExAC:
2:73829361 G / A
gnomAD v2:
2-73829361-G-A
gnomAD v3:
2-73602234-G-A
gnomAD v4:
2-73602234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73602234G>A , CM000664.2:g.73602234G>A | GRCh38 |
| NC_000002.11:g.73829361G>A , CM000664.1:g.73829361G>A | GRCh37 |
| NC_000002.10:g.73682869G>A | NCBI36 |
| NG_011690.1:g.221482G>A , LRG_741:g.221482G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11783G>A | ENSP00000507671.1:p.Arg3928Gln | |
| ENST00000682801.1:c.11216G>A | ENSP00000507862.1:p.Arg3739Gln | |
| ENST00000682859.1:c.11783G>A | ENSP00000508222.1:p.Arg3928Gln | |
| ENST00000683791.1:c.4869G>A | ||
| ENST00000684460.1:c.9064G>A | ||
| ENST00000684548.1:c.11783G>A | ENSP00000507421.1:p.Arg3928Gln | |
| ENST00000684590.1:c.6230G>A | ENSP00000507376.1:p.Arg2077Gln | |
| ENST00000684656.1:c.9248G>A | ||
| ENST00000613296.6:c.12164G>A MANE Select | ENSP00000482968.1:p.Arg4055Gln | |
| ENST00000651057.1:c.2318G>A | ENSP00000498504.1:p.Arg773Gln | |
| ENST00000651434.1:c.3520G>A | ||
| ENST00000651750.1:c.1310G>A | ||
| ENST00000652487.1:c.3335G>A | ||
| ENST00000464408.3:n.339G>A | ||
| ENST00000484298.5:c.12038G>A | ENSP00000478155.1:p.Arg4013Gln | |
| ENST00000613296.4:c.12164G>A | ENSP00000482968.1:p.Arg4055Gln | |
| ENST00000620466.4:n.5967G>A | ||
| NM_015120.4:c.12167G>A , LRG_741t1:c.12167G>A | NP_055935.4:p.Arg4056Gln | |
| NM_001378454.1:c.12164G>A MANE Select | NP_001365383.1:p.Arg4055Gln |