Linked Data
ClinVar Variation Id:
6636
ClinVar RCV Id:
RCV000007015
dbSNP Id:
rs28937582
PubMed:
PMID:12023287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.161085958T>G , CM000665.2:g.161085958T>G | GRCh38 |
| NC_000003.11:g.160803746T>G , CM000665.1:g.160803746T>G | GRCh37 |
| NC_000003.10:g.162286440T>G | NCBI36 |
| NG_007854.1:g.24415A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320474.10:c.797A>C MANE Select | ENSP00000323479.4:p.Glu266Ala | |
| ENST00000392781.7:c.797A>C | ENSP00000376532.2:p.Glu266Ala | |
| ENST00000417187.2:c.102-85A>C | ENSP00000407027.2:n.102-85A>C | |
| ENST00000476999.6:c.102-85A>C | ENSP00000498840.1:n.102-85A>C | |
| ENST00000494173.7:c.162-85A>C | ENSP00000419127.3:n.162-85A>C | |
| ENST00000494818.6:c.102-85A>C | ENSP00000498378.1:n.102-85A>C | |
| ENST00000496295.6:n.481-85A>C | ||
| ENST00000650695.1:c.797A>C | ENSP00000498902.1:p.Glu266Ala | |
| ENST00000650733.1:c.797A>C | ENSP00000499186.1:p.Glu266Ala | |
| ENST00000651117.1:c.797A>C | ENSP00000498854.1:p.Glu266Ala | |
| ENST00000651147.1:c.797A>C | ENSP00000498478.1:p.Glu266Ala | |
| ENST00000651178.1:c.797A>C | ENSP00000498982.1:p.Glu266Ala | |
| ENST00000651254.1:c.797A>C | ENSP00000498553.1:p.Glu266Ala | |
| ENST00000651282.1:c.492-85A>C | ENSP00000498435.1:n.492-85A>C | |
| ENST00000651292.1:c.797A>C | ENSP00000498542.1:p.Glu266Ala | |
| ENST00000651305.1:c.797A>C | ENSP00000498427.1:p.Glu266Ala | |
| ENST00000651379.1:c.797A>C | ENSP00000498978.1:p.Glu266Ala | |
| ENST00000651380.1:c.797A>C | ENSP00000499072.1:p.Glu266Ala | |
| ENST00000651422.1:n.3067A>C | ||
| ENST00000651430.1:c.162-85A>C | ENSP00000499079.1:n.162-85A>C | |
| ENST00000651460.1:c.797A>C | ENSP00000498369.1:p.Glu266Ala | |
| ENST00000651509.1:c.797A>C | ENSP00000499003.1:p.Glu266Ala | |
| ENST00000651686.1:c.797A>C | ENSP00000498346.1:p.Glu266Ala | |
| ENST00000651689.1:c.797A>C | ENSP00000499010.1:p.Glu266Ala | |
| ENST00000651791.1:c.797A>C | ENSP00000499180.1:p.Glu266Ala | |
| ENST00000651801.1:c.162-85A>C | ENSP00000498243.1:n.162-85A>C | |
| ENST00000651916.1:c.797A>C | ENSP00000498487.1:p.Glu266Ala | |
| ENST00000651953.1:c.797A>C | ENSP00000498633.1:p.Glu266Ala | |
| ENST00000651972.1:c.797A>C | ENSP00000498907.1:p.Glu266Ala | |
| ENST00000652032.1:c.797A>C | ENSP00000498901.1:p.Glu266Ala | |
| ENST00000652059.1:c.797A>C | ENSP00000498743.1:p.Glu266Ala | |
| ENST00000652111.1:c.797A>C | ENSP00000498689.1:p.Glu266Ala | |
| ENST00000652134.1:n.1427A>C | ||
| ENST00000652143.1:c.797A>C | ENSP00000498655.1:p.Glu266Ala | |
| ENST00000652377.1:c.797A>C | ENSP00000498481.1:p.Glu266Ala | |
| ENST00000652593.1:c.102-85A>C | ENSP00000498331.1:n.102-85A>C | |
| ENST00000652596.1:c.797A>C | ENSP00000498810.1:p.Glu266Ala | |
| ENST00000652669.1:c.797A>C | ENSP00000498696.1:p.Glu266Ala | |
| ENST00000652730.1:c.797A>C | ENSP00000498660.1:p.Glu266Ala | |
| ENST00000320474.8:c.797A>C | ENSP00000323479.4:p.Glu266Ala | |
| ENST00000392779.6:c.797A>C | ENSP00000376530.2:p.Glu266Ala | |
| ENST00000392781.6:c.797A>C | ENSP00000376532.2:p.Glu266Ala | |
| ENST00000417187.1:c.162-85A>C | ENSP00000407027.1:n.162-85A>C | |
| ENST00000473285.5:c.797A>C | ENSP00000418226.1:p.Glu266Ala | |
| ENST00000488170.5:c.797A>C | ENSP00000420163.1:p.Glu266Ala | |
| NM_001038628.1:c.797A>C | NP_001033717.1:p.Glu266Ala | |
| NM_003781.3:c.797A>C | NP_003772.1:p.Glu266Ala | |
| NM_033167.2:c.797A>C | NP_149357.1:p.Glu266Ala | |
| NM_033168.2:c.797A>C | NP_149358.1:p.Glu266Ala | |
| NM_033169.2:c.797A>C | NP_149359.1:p.Glu266Ala | |
| XM_005247859.3:c.797A>C | XP_005247916.1:p.Glu266Ala | |
| XM_005247861.2:c.797A>C | XP_005247918.1:p.Glu266Ala | |
| XM_005247862.2:c.797A>C | XP_005247919.1:p.Glu266Ala | |
| XM_005247864.2:c.797A>C | XP_005247921.1:p.Glu266Ala | |
| XM_006713803.2:c.797A>C | XP_006713866.1:p.Glu266Ala | |
| XM_006713804.2:c.797A>C | XP_006713867.1:p.Glu266Ala | |
| XM_006713805.2:c.797A>C | XP_006713868.1:p.Glu266Ala | |
| XM_011513261.1:c.797A>C | XP_011511563.1:p.Glu266Ala | |
| NM_001349130.1:c.797A>C | NP_001336059.1:p.Glu266Ala | |
| NM_001349131.1:c.797A>C | NP_001336060.1:p.Glu266Ala | |
| NM_001349132.1:c.797A>C | NP_001336061.1:p.Glu266Ala | |
| NM_001349133.1:c.797A>C | NP_001336062.1:p.Glu266Ala | |
| NM_001349134.1:c.797A>C | NP_001336063.1:p.Glu266Ala | |
| NM_001349135.1:c.797A>C | NP_001336064.1:p.Glu266Ala | |
| NM_001349136.1:c.797A>C | NP_001336065.1:p.Glu266Ala | |
| NM_001349137.1:c.797A>C | NP_001336066.1:p.Glu266Ala | |
| NM_001349138.1:c.797A>C | NP_001336067.1:p.Glu266Ala | |
| NM_001349139.1:c.797A>C | NP_001336068.1:p.Glu266Ala | |
| NM_001349140.1:c.797A>C | NP_001336069.1:p.Glu266Ala | |
| NM_001349141.1:c.797A>C | NP_001336070.1:p.Glu266Ala | |
| NM_001349142.1:c.797A>C | NP_001336071.1:p.Glu266Ala | |
| NM_001349143.1:c.797A>C | NP_001336072.1:p.Glu266Ala | |
| NM_001349144.1:c.797A>C | NP_001336073.1:p.Glu266Ala | |
| NM_001349145.1:c.797A>C | NP_001336074.1:p.Glu266Ala | |
| NM_001349146.1:c.797A>C | NP_001336075.1:p.Glu266Ala | |
| NM_001349147.1:c.797A>C | NP_001336076.1:p.Glu266Ala | |
| NM_001349148.1:c.797A>C | NP_001336077.1:p.Glu266Ala | |
| NM_001349149.1:c.797A>C | NP_001336078.1:p.Glu266Ala | |
| NM_001349150.1:c.797A>C | NP_001336079.1:p.Glu266Ala | |
| NM_001349151.1:c.797A>C | NP_001336080.1:p.Glu266Ala | |
| NM_001349152.1:c.797A>C | NP_001336081.1:p.Glu266Ala | |
| NM_001349153.1:c.797A>C | NP_001336082.1:p.Glu266Ala | |
| NM_001349154.1:c.797A>C | NP_001336083.1:p.Glu266Ala | |
| NM_001349155.1:c.797A>C | NP_001336084.1:p.Glu266Ala | |
| NM_001349156.1:c.797A>C | NP_001336085.1:p.Glu266Ala | |
| NM_001349157.1:c.797A>C | NP_001336086.1:p.Glu266Ala | |
| NM_001349158.1:c.797A>C | NP_001336087.1:p.Glu266Ala | |
| NM_001349159.1:c.797A>C | NP_001336088.1:p.Glu266Ala | |
| NM_001349160.1:c.797A>C | NP_001336089.1:p.Glu266Ala | |
| NM_001349161.1:c.797A>C | NP_001336090.1:p.Glu266Ala | |
| NM_001349162.1:c.1157A>C | NP_001336091.1:p.Glu386Ala | |
| NM_001349163.1:c.1157A>C | NP_001336092.1:p.Glu386Ala | |
| XM_005247859.5:c.797A>C | XP_005247916.1:p.Glu266Ala | |
| XM_024453808.1:c.797A>C | XP_024309576.1:p.Glu266Ala | |
| NM_003781.4:c.797A>C MANE Select | NP_003772.1:p.Glu266Ala | |
| NM_001038628.2:c.797A>C | NP_001033717.1:p.Glu266Ala | |
| NM_001349130.2:c.797A>C | NP_001336059.1:p.Glu266Ala | |
| NM_001349131.2:c.797A>C | NP_001336060.1:p.Glu266Ala | |
| NM_001349132.2:c.797A>C | NP_001336061.1:p.Glu266Ala | |
| NM_001349133.2:c.797A>C | NP_001336062.1:p.Glu266Ala | |
| NM_001349134.2:c.797A>C | NP_001336063.1:p.Glu266Ala | |
| NM_001349135.2:c.797A>C | NP_001336064.1:p.Glu266Ala | |
| NM_001349136.2:c.797A>C | NP_001336065.1:p.Glu266Ala | |
| NM_001349137.2:c.797A>C | NP_001336066.1:p.Glu266Ala | |
| NM_001349138.2:c.797A>C | NP_001336067.1:p.Glu266Ala | |
| NM_001349139.2:c.797A>C | NP_001336068.1:p.Glu266Ala | |
| NM_001349140.2:c.797A>C | NP_001336069.1:p.Glu266Ala | |
| NM_001349141.2:c.797A>C | NP_001336070.1:p.Glu266Ala | |
| NM_001349142.2:c.797A>C | NP_001336071.1:p.Glu266Ala | |
| NM_001349143.2:c.797A>C | NP_001336072.1:p.Glu266Ala | |
| NM_001349144.2:c.797A>C | NP_001336073.1:p.Glu266Ala | |
| NM_001349145.2:c.797A>C | NP_001336074.1:p.Glu266Ala | |
| NM_001349146.2:c.797A>C | NP_001336075.1:p.Glu266Ala | |
| NM_001349147.2:c.797A>C | NP_001336076.1:p.Glu266Ala | |
| NM_001349148.2:c.797A>C | NP_001336077.1:p.Glu266Ala | |
| NM_001349149.2:c.797A>C | NP_001336078.1:p.Glu266Ala | |
| NM_001349150.2:c.797A>C | NP_001336079.1:p.Glu266Ala | |
| NM_001349151.2:c.797A>C | NP_001336080.1:p.Glu266Ala | |
| NM_001349152.2:c.797A>C | NP_001336081.1:p.Glu266Ala | |
| NM_001349153.2:c.797A>C | NP_001336082.1:p.Glu266Ala | |
| NM_001349154.2:c.797A>C | NP_001336083.1:p.Glu266Ala | |
| NM_001349155.2:c.797A>C | NP_001336084.1:p.Glu266Ala | |
| NM_001349156.2:c.797A>C | NP_001336085.1:p.Glu266Ala | |
| NM_001349157.2:c.797A>C | NP_001336086.1:p.Glu266Ala | |
| NM_001349158.2:c.797A>C | NP_001336087.1:p.Glu266Ala | |
| NM_001349159.2:c.797A>C | NP_001336088.1:p.Glu266Ala | |
| NM_001349161.2:c.797A>C | NP_001336090.1:p.Glu266Ala | |
| NM_001349162.2:c.1157A>C | NP_001336091.1:p.Glu386Ala | |
| NM_001349163.2:c.1157A>C | NP_001336092.1:p.Glu386Ala | |
| NM_033167.3:c.797A>C | NP_149357.1:p.Glu266Ala | |
| NM_033168.3:c.797A>C | NP_149358.1:p.Glu266Ala | |
| NM_033169.3:c.797A>C | NP_149359.1:p.Glu266Ala |