Linked Data
ClinVar Variation Id:
208941
ClinVar RCV Id:
RCV000201373
dbSNP Id:
rs863223390
gnomAD v2:
2-234713657-G-A
gnomAD v3:
2-233805011-G-A
gnomAD v4:
2-233805011-G-A
COSMIC:
COSM5922162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233805011G>A , CM000664.2:g.233805011G>A | GRCh38 |
| NC_000002.11:g.234713657G>A , CM000664.1:g.234713657G>A | GRCh37 |
| NC_000002.10:g.234378396G>A | NCBI36 |
| NG_051337.1:g.34350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389758.4:c.1952G>A MANE Select | ENSP00000374408.3:p.Arg651Gln | |
| ENST00000389758.3:c.1952G>A | ENSP00000374408.3:p.Arg651Gln | |
| ENST00000610772.4:c.1961G>A | ENSP00000477597.1:p.Arg654Gln | |
| NM_001287395.1:c.1961G>A | NP_001274324.1:p.Arg654Gln | |
| XM_011511075.1:c.2042G>A | XP_011509377.1:p.Arg681Gln | |
| XM_011511076.1:c.2042G>A | XP_011509378.1:p.Arg681Gln | |
| XM_011511077.1:c.2042G>A | XP_011509379.1:p.Arg681Gln | |
| XM_011511078.1:c.2042G>A | XP_011509380.1:p.Arg681Gln | |
| XM_011511079.1:c.2042G>A | XP_011509381.1:p.Arg681Gln | |
| XM_011511080.1:c.1952G>A | XP_011509382.1:p.Arg651Gln | |
| XM_011511081.1:c.2042G>A | XP_011509383.1:p.Arg681Gln | |
| XM_011511082.1:c.2042G>A | XP_011509384.1:p.Arg681Gln | |
| XM_011511083.1:c.2042G>A | XP_011509385.1:p.Arg681Gln | |
| XM_011511084.1:c.2042G>A | XP_011509386.1:p.Arg681Gln | |
| XM_011511085.1:c.1208G>A | XP_011509387.1:p.Arg403Gln | |
| XM_011511086.1:c.2042G>A | XP_011509388.1:p.Arg681Gln | |
| XM_011511076.2:c.2042G>A | XP_011509378.1:p.Arg681Gln | |
| XM_011511086.2:c.2042G>A | XP_011509388.1:p.Arg681Gln | |
| XM_024452839.1:c.2042G>A | XP_024308607.1:p.Arg681Gln | |
| XM_024452840.1:c.2042G>A | XP_024308608.1:p.Arg681Gln | |
| XM_024452841.1:c.2042G>A | XP_024308609.1:p.Arg681Gln | |
| XM_024452842.1:c.1952G>A | XP_024308610.1:p.Arg651Gln | |
| XM_024452843.1:c.2042G>A | XP_024308611.1:p.Arg681Gln | |
| XM_024452844.1:c.2042G>A | XP_024308612.1:p.Arg681Gln | |
| XM_024452845.1:c.2042G>A | XP_024308613.1:p.Arg681Gln | |
| XM_024452846.1:c.2042G>A | XP_024308614.1:p.Arg681Gln | |
| XM_024452847.1:c.1208G>A | XP_024308615.1:p.Arg403Gln | |
| XM_024452848.1:c.1208G>A | XP_024308616.1:p.Arg403Gln | |
| XM_024452849.1:c.1064G>A | XP_024308617.1:p.Arg355Gln | |
| NM_001367507.1:c.1952G>A | NP_001354436.1:p.Arg651Gln | |
| NM_001394639.1:c.1952G>A MANE Select | NP_001381568.1:p.Arg651Gln |