Linked Data
ClinVar Variation Id:
2967796
ClinVar RCV Id:
RCV003826458
dbSNP Id:
rs377105525
gnomAD v2:
X-41519725-A-C
gnomAD v3:
X-41660472-A-C
gnomAD v4:
X-41660472-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41660472A>C , CM000685.2:g.41660472A>C | GRCh38 |
| NC_000023.10:g.41519725A>C , CM000685.1:g.41519725A>C | GRCh37 |
| NC_000023.9:g.41404669A>C | NCBI36 |
| NG_016754.1:g.267563T>G | |
| NG_016754.2:g.267563T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378154.3:c.798T>G | ENSP00000367396.2:p.Thr266= | |
| ENST00000378158.6:c.798T>G | ENSP00000367400.2:p.Thr266= | |
| ENST00000378163.7:c.798T>G MANE Select | ENSP00000367405.1:p.Thr266= | |
| ENST00000378166.9:c.798T>G | ENSP00000367408.5:p.Thr266= | |
| ENST00000378168.8:c.816T>G | ENSP00000367410.4:p.Thr272= | |
| ENST00000421587.8:c.816T>G | ENSP00000400526.4:p.Thr272= | |
| ENST00000442742.7:c.798T>G | ENSP00000398007.3:p.Thr266= | |
| ENST00000643043.2:c.243T>G | ENSP00000493518.2:p.Thr81= | |
| ENST00000643831.2:c.798T>G | ENSP00000494388.2:p.Thr266= | |
| ENST00000643853.1:n.512T>G | ||
| ENST00000644219.1:c.798T>G | ENSP00000495357.1:p.Thr266= | |
| ENST00000644347.1:c.798T>G | ENSP00000494183.1:p.Thr266= | |
| ENST00000645566.1:c.798T>G | ENSP00000494788.1:p.Thr266= | |
| ENST00000645986.2:c.798T>G | ENSP00000494409.2:p.Thr266= | |
| ENST00000646087.2:c.243T>G | ENSP00000495510.2:p.Thr81= | |
| ENST00000646120.2:c.798T>G | ENSP00000495291.2:p.Thr266= | |
| ENST00000647118.2:c.*485T>G | ENSP00000493700.1:n.*485T>G | |
| ENST00000675354.1:c.816T>G | ENSP00000502315.1:p.Thr272= | |
| ENST00000378154.1:c.798T>G | ENSP00000367396.1:p.Thr266= | |
| ENST00000378158.5:c.798T>G | ENSP00000367400.1:p.Thr266= | |
| ENST00000378163.5:c.798T>G | ENSP00000367405.1:p.Thr266= | |
| ENST00000378166.8:c.798T>G | ENSP00000367408.4:p.Thr266= | |
| ENST00000421587.6:c.798T>G | ENSP00000400526.2:p.Thr266= | |
| ENST00000442742.6:c.798T>G | ENSP00000398007.2:p.Thr266= | |
| ENST00000469265.1:n.245T>G | ||
| ENST00000486402.1:n.362T>G | ||
| NM_001126054.2:c.798T>G | NP_001119526.1:p.Thr266= | |
| NM_001126055.2:c.798T>G | NP_001119527.1:p.Thr266= | |
| NM_003688.3:c.798T>G | NP_003679.2:p.Thr266= | |
| XM_005272686.3:c.798T>G | XP_005272743.1:p.Thr266= | |
| XM_006724566.2:c.798T>G | XP_006724629.1:p.Thr266= | |
| XM_011543993.1:c.816T>G | XP_011542295.1:p.Thr272= | |
| XM_011543994.1:c.816T>G | XP_011542296.1:p.Thr272= | |
| XM_011543995.1:c.816T>G | XP_011542297.1:p.Thr272= | |
| XM_011543996.1:c.816T>G | XP_011542298.1:p.Thr272= | |
| XM_011543997.1:c.243T>G | XP_011542299.1:p.Thr81= | |
| XM_005272686.4:c.798T>G | XP_005272743.1:p.Thr266= | |
| XM_006724566.3:c.798T>G | XP_006724629.1:p.Thr266= | |
| XM_011543993.2:c.816T>G | XP_011542295.1:p.Thr272= | |
| XM_011543994.2:c.816T>G | XP_011542296.1:p.Thr272= | |
| XM_011543995.2:c.816T>G | XP_011542297.1:p.Thr272= | |
| XM_011543996.2:c.816T>G | XP_011542298.1:p.Thr272= | |
| XM_011543997.3:c.243T>G | XP_011542299.1:p.Thr81= | |
| XM_024452473.1:c.243T>G | XP_024308241.1:p.Thr81= | |
| NM_001367721.1:c.798T>G MANE Select | NP_001354650.1:p.Thr266= |