Linked Data
ClinVar Variation Id:
266083
ClinVar RCV Id:
RCV000256466
dbSNP Id:
rs886039797
gnomAD v2:
16-56536719-A-C
gnomAD v4:
16-56502807-A-C
PubMed:
PMID:27894351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56502807A>C , CM000678.2:g.56502807A>C | GRCh38 |
| NC_000016.9:g.56536719A>C , CM000678.1:g.56536719A>C | GRCh37 |
| NC_000016.8:g.55094220A>C | NCBI36 |
| NG_009312.1:g.22477T>G | |
| NG_009312.2:g.22218T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.89T>G | ENSP00000454986.2:p.Val30Gly | |
| ENST00000562012.2:c.*780T>G | ENSP00000455651.2:n.*780T>G | |
| ENST00000562059.2:n.803T>G | ||
| ENST00000565378.2:n.743T>G | ||
| ENST00000565781.6:n.820T>G | ||
| ENST00000565859.2:n.1061T>G | ||
| ENST00000566210.2:n.89T>G | ||
| ENST00000566410.2:n.1019T>G | ||
| ENST00000568104.6:c.806T>G | ENSP00000456289.1:p.Val269Gly | |
| ENST00000569342.6:n.979T>G | ||
| ENST00000682000.1:n.364T>G | ||
| ENST00000682001.1:n.800T>G | ||
| ENST00000682005.1:n.797T>G | ||
| ENST00000682021.1:n.816T>G | ||
| ENST00000682038.1:c.*70T>G | ENSP00000508404.1:n.*70T>G | |
| ENST00000682047.1:c.806T>G | ENSP00000507699.1:p.Val269Gly | |
| ENST00000682088.1:c.*230T>G | ENSP00000508064.1:n.*230T>G | |
| ENST00000682096.1:n.1012T>G | ||
| ENST00000682113.1:n.779T>G | ||
| ENST00000682146.1:n.1019T>G | ||
| ENST00000682187.1:c.*230T>G | ENSP00000507203.1:n.*230T>G | |
| ENST00000682188.1:c.806T>G | ENSP00000507655.1:p.Val269Gly | |
| ENST00000682201.1:n.797T>G | ||
| ENST00000682205.1:c.806T>G | ENSP00000508377.1:p.Val269Gly | |
| ENST00000682348.1:c.806T>G | ENSP00000506965.1:p.Val269Gly | |
| ENST00000682360.1:c.209T>G | ENSP00000508007.1:p.Val70Gly | |
| ENST00000682370.1:n.1012T>G | ||
| ENST00000682420.1:n.1012T>G | ||
| ENST00000682429.1:c.806T>G | ENSP00000506827.1:p.Val269Gly | |
| ENST00000682449.1:c.806T>G | ENSP00000507836.1:p.Val269Gly | |
| ENST00000682470.1:c.806T>G | ENSP00000507654.1:p.Val269Gly | |
| ENST00000682473.1:n.771T>G | ||
| ENST00000682482.1:c.680T>G | ENSP00000507903.1:p.Val227Gly | |
| ENST00000682492.1:n.850T>G | ||
| ENST00000682493.1:c.806T>G | ENSP00000506778.1:p.Val269Gly | |
| ENST00000682543.1:c.*230T>G | ENSP00000507592.1:n.*230T>G | |
| ENST00000682561.1:n.815T>G | ||
| ENST00000682597.1:n.1012T>G | ||
| ENST00000682658.1:c.806T>G | ENSP00000507773.1:p.Val269Gly | |
| ENST00000682705.1:n.1012T>G | ||
| ENST00000682723.1:c.209T>G | ENSP00000507115.1:p.Val70Gly | |
| ENST00000682735.1:c.*230T>G | ENSP00000507007.1:n.*230T>G | |
| ENST00000682737.1:c.209T>G | ENSP00000506876.1:p.Val70Gly | |
| ENST00000682757.1:n.1012T>G | ||
| ENST00000682855.1:c.806T>G | ENSP00000507027.1:p.Val269Gly | |
| ENST00000682857.1:n.1019T>G | ||
| ENST00000682875.1:c.806T>G | ENSP00000507771.1:p.Val269Gly | |
| ENST00000682919.1:n.906T>G | ||
| ENST00000682930.1:c.731T>G | ENSP00000507981.1:p.Val244Gly | |
| ENST00000682948.1:n.1019T>G | ||
| ENST00000682960.1:n.1019T>G | ||
| ENST00000683008.1:n.1012T>G | ||
| ENST00000683020.1:c.806T>G | ENSP00000507944.1:p.Val269Gly | |
| ENST00000683099.1:n.1012T>G | ||
| ENST00000683170.1:n.950T>G | ||
| ENST00000683212.1:c.806T>G | ENSP00000507839.1:p.Val269Gly | |
| ENST00000683248.1:n.1012T>G | ||
| ENST00000683343.1:n.797T>G | ||
| ENST00000683347.1:n.797T>G | ||
| ENST00000683384.1:c.827T>G | ENSP00000508330.1:n.827T>G | |
| ENST00000683396.1:n.1012T>G | ||
| ENST00000683410.1:n.1012T>G | ||
| ENST00000683443.1:n.440T>G | ||
| ENST00000683485.1:n.1019T>G | ||
| ENST00000683504.1:n.4153T>G | ||
| ENST00000683533.1:c.*230T>G | ENSP00000508296.1:n.*230T>G | |
| ENST00000683609.1:n.1019T>G | ||
| ENST00000683644.1:c.806T>G | ENSP00000507914.1:p.Val269Gly | |
| ENST00000683660.1:n.1019T>G | ||
| ENST00000683669.1:n.689T>G | ||
| ENST00000683690.1:c.*230T>G | ENSP00000508152.1:n.*230T>G | |
| ENST00000683719.1:n.789T>G | ||
| ENST00000683757.1:n.795T>G | ||
| ENST00000683858.1:c.806T>G | ENSP00000507657.1:p.Val269Gly | |
| ENST00000683875.1:c.578T>G | ENSP00000507602.1:p.Val193Gly | |
| ENST00000683904.1:n.1019T>G | ||
| ENST00000683910.1:n.1019T>G | ||
| ENST00000683959.1:c.209T>G | ENSP00000508309.1:p.Val70Gly | |
| ENST00000683976.1:c.*355T>G | ENSP00000507183.1:n.*355T>G | |
| ENST00000683978.1:n.949T>G | ||
| ENST00000683992.1:c.*230T>G | ENSP00000508144.1:n.*230T>G | |
| ENST00000684020.1:n.1012T>G | ||
| ENST00000684044.1:n.1019T>G | ||
| ENST00000684057.1:n.1008T>G | ||
| ENST00000684076.1:n.977T>G | ||
| ENST00000684128.1:n.1012T>G | ||
| ENST00000684194.1:n.1012T>G | ||
| ENST00000684205.1:n.1450T>G | ||
| ENST00000684246.1:c.*230T>G | ENSP00000508273.1:n.*230T>G | |
| ENST00000684402.1:n.1012T>G | ||
| ENST00000684446.1:n.1019T>G | ||
| ENST00000684531.1:n.1039T>G | ||
| ENST00000684635.1:c.701T>G | ENSP00000507335.1:p.Val234Gly | |
| ENST00000684640.1:c.812T>G | ENSP00000507292.1:n.812T>G | |
| ENST00000684673.1:c.806T>G | ENSP00000507746.1:p.Val269Gly | |
| ENST00000684684.1:c.*230T>G | ENSP00000507026.1:n.*230T>G | |
| ENST00000245157.11:c.806T>G MANE Select | ENSP00000245157.5:p.Val269Gly | |
| ENST00000245157.9:c.806T>G | ENSP00000245157.5:p.Val269Gly | |
| ENST00000561853.1:n.133T>G | ||
| ENST00000561951.5:n.455T>G | ||
| ENST00000562012.1:c.227T>G | ENSP00000455651.1:p.Val76Gly | |
| ENST00000565781.5:n.820T>G | ||
| ENST00000568104.5:c.806T>G | ENSP00000456289.1:p.Val269Gly | |
| ENST00000569342.5:n.940T>G | ||
| NM_031885.3:c.806T>G | NP_114091.3:p.Val269Gly | |
| XM_005256080.1:c.806T>G | XP_005256137.1:p.Val269Gly | |
| XM_005256081.1:c.806T>G | XP_005256138.1:p.Val269Gly | |
| XM_005256082.1:c.806T>G | XP_005256139.1:p.Val269Gly | |
| XM_011523251.1:c.806T>G | XP_011521553.1:p.Val269Gly | |
| XR_933378.1:n.1039T>G | ||
| XR_933379.1:n.1039T>G | ||
| XR_933380.1:n.1039T>G | ||
| XM_005256080.2:c.806T>G | XP_005256137.1:p.Val269Gly | |
| XR_001751958.1:n.1039T>G | ||
| XR_001751959.2:n.1039T>G | ||
| XR_001751960.1:n.1039T>G | ||
| XR_001751961.1:n.1039T>G | ||
| XR_933380.2:n.1039T>G | ||
| NM_031885.4:c.806T>G | NP_114091.3:p.Val269Gly | |
| NM_001377456.1:c.806T>G | NP_001364385.1:p.Val269Gly | |
| NM_031885.5:c.806T>G MANE Select | NP_114091.4:p.Val269Gly | |
| NR_165293.1:n.968T>G | ||
| NR_165294.1:n.968T>G | ||
| NR_165295.1:n.968T>G | ||
| NR_165296.1:n.968T>G | ||
| NR_165297.1:n.968T>G |