Linked Data
ClinVar Variation Id:
706
ClinVar RCV Id:
RCV000000741
dbSNP Id:
rs118204442
gnomAD v2:
16-88901743-C-T
gnomAD v3:
16-88835335-C-T
gnomAD v4:
16-88835335-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88835335C>T , CM000678.2:g.88835335C>T | GRCh38 |
| NC_000016.9:g.88901743C>T , CM000678.1:g.88901743C>T | GRCh37 |
| NC_000016.8:g.87429244C>T | NCBI36 |
| NG_008667.1:g.26632G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.776G>A MANE Select | ENSP00000268695.5:p.Arg259Gln | |
| ENST00000268695.9:c.776G>A | ENSP00000268695.5:p.Arg259Gln | |
| ENST00000562593.5:n.4185G>A | ||
| ENST00000562931.5:n.364G>A | ||
| ENST00000567525.5:c.457G>A | ENSP00000454484.1:n.457G>A | |
| ENST00000568613.5:c.895G>A | ENSP00000457921.1:n.895G>A | |
| NM_000512.4:c.776G>A | NP_000503.1:p.Arg259Gln | |
| XM_005256301.2:c.776G>A | XP_005256358.1:p.Arg259Gln | |
| XM_005256302.1:c.794G>A | XP_005256359.1:p.Arg265Gln | |
| XM_011522982.1:c.794G>A | XP_011521284.1:p.Arg265Gln | |
| XM_011522984.1:c.794G>A | XP_011521286.1:p.Arg265Gln | |
| NM_001323543.1:c.221G>A | NP_001310472.1:p.Arg74Gln | |
| NM_001323544.1:c.794G>A | NP_001310473.1:p.Arg265Gln | |
| XM_005256301.3:c.776G>A | XP_005256358.1:p.Arg259Gln | |
| XM_011522982.2:c.794G>A | XP_011521284.1:p.Arg265Gln | |
| XM_017023111.2:c.794G>A | XP_016878600.1:p.Arg265Gln | |
| XM_017023112.2:c.794G>A | XP_016878601.1:p.Arg265Gln | |
| XM_017023113.1:c.221G>A | XP_016878602.1:p.Arg74Gln | |
| NM_000512.5:c.776G>A MANE Select | NP_000503.1:p.Arg259Gln | |
| NM_001323543.2:c.221G>A | NP_001310472.1:p.Arg74Gln | |
| NM_001323544.2:c.794G>A | NP_001310473.1:p.Arg265Gln |