Linked Data
ClinVar Variation Id:
2891349
ClinVar RCV Id:
RCV003611452
dbSNP Id:
rs773719264
ExAC:
8:75276222 G / A
gnomAD v2:
8-75276222-G-A
gnomAD v4:
8-74363987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74363987G>A , CM000670.2:g.74363987G>A | GRCh38 |
| NC_000008.10:g.75276222G>A , CM000670.1:g.75276222G>A | GRCh37 |
| NC_000008.9:g.75438777G>A | NCBI36 |
| NG_008787.2:g.47858G>A | |
| NG_008787.3:g.47858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220822.12:c.697G>A MANE Select | ENSP00000220822.7:p.Glu233Lys | |
| ENST00000434412.3:c.565G>A | ENSP00000417006.3:p.Glu189Lys | |
| ENST00000520797.6:n.808G>A | ||
| ENST00000521096.6:n.553G>A | ||
| ENST00000522568.2:c.*369G>A | ENSP00000430136.1:n.*369G>A | |
| ENST00000523640.2:c.165+12666G>A | ENSP00000502017.1:n.165+12666G>A | |
| ENST00000524195.2:c.280+934G>A | ENSP00000502308.1:n.280+934G>A | |
| ENST00000674612.1:c.370G>A | ENSP00000501864.1:p.Glu124Lys | |
| ENST00000674710.1:c.694+934G>A | ENSP00000502762.1:n.694+934G>A | |
| ENST00000674754.1:c.*2260G>A | ENSP00000502063.1:n.*2260G>A | |
| ENST00000674756.1:c.*366+934G>A | ENSP00000501860.1:n.*366+934G>A | |
| ENST00000674806.1:c.370G>A | ENSP00000502637.1:p.Glu124Lys | |
| ENST00000674865.1:c.493G>A | ENSP00000502437.1:p.Glu165Lys | |
| ENST00000674926.1:c.*1329G>A | ENSP00000501799.1:n.*1329G>A | |
| ENST00000674934.1:c.*385G>A | ENSP00000502187.1:n.*385G>A | |
| ENST00000674944.1:c.*1300G>A | ENSP00000501858.1:n.*1300G>A | |
| ENST00000674946.1:c.694+934G>A | ENSP00000501569.1:n.694+934G>A | |
| ENST00000674973.1:c.391G>A | ENSP00000502447.1:p.Glu131Lys | |
| ENST00000675007.1:c.*435G>A | ENSP00000502119.1:n.*435G>A | |
| ENST00000675060.1:c.*362G>A | ENSP00000501616.1:n.*362G>A | |
| ENST00000675165.1:c.695-1G>A | ENSP00000502612.1:n.695-1G>A | |
| ENST00000675220.1:c.370G>A | ENSP00000502588.1:p.Glu124Lys | |
| ENST00000675265.1:c.*447G>A | ENSP00000501848.1:n.*447G>A | |
| ENST00000675336.1:c.*183G>A | ENSP00000502120.1:n.*183G>A | |
| ENST00000675376.1:c.370G>A | ENSP00000502838.1:p.Glu124Lys | |
| ENST00000675463.1:c.775G>A | ENSP00000502327.1:p.Glu259Lys | |
| ENST00000675472.1:c.*183G>A | ENSP00000501946.1:n.*183G>A | |
| ENST00000675474.1:n.282G>A | ||
| ENST00000675560.1:c.*366+934G>A | ENSP00000502118.1:n.*366+934G>A | |
| ENST00000675625.1:c.*369G>A | ENSP00000501626.1:n.*369G>A | |
| ENST00000675633.1:c.*104G>A | ENSP00000501785.1:n.*104G>A | |
| ENST00000675661.1:c.*457G>A | ENSP00000501958.1:n.*457G>A | |
| ENST00000675706.1:n.2655G>A | ||
| ENST00000675821.1:c.370G>A | ENSP00000502198.1:p.Glu124Lys | |
| ENST00000675832.1:c.*369G>A | ENSP00000502041.1:n.*369G>A | |
| ENST00000675928.1:c.523G>A | ENSP00000501568.1:p.Glu175Lys | |
| ENST00000675944.1:c.493G>A | ENSP00000502673.1:p.Glu165Lys | |
| ENST00000675999.1:c.694+934G>A | ENSP00000502572.1:n.694+934G>A | |
| ENST00000676049.1:c.*599G>A | ENSP00000501912.1:n.*599G>A | |
| ENST00000676112.1:c.763G>A | ENSP00000502295.1:p.Glu255Lys | |
| ENST00000676143.1:c.370G>A | ENSP00000502828.1:p.Glu124Lys | |
| ENST00000676207.1:c.694+934G>A | ENSP00000502638.1:n.694+934G>A | |
| ENST00000676377.1:c.370G>A | ENSP00000502756.1:p.Glu124Lys | |
| ENST00000676415.1:c.*3G>A | ENSP00000502665.1:n.*3G>A | |
| ENST00000676443.1:c.649G>A | ENSP00000501769.1:p.Glu217Lys | |
| ENST00000220822.11:c.697G>A | ENSP00000220822.7:p.Glu233Lys | |
| ENST00000434412.2:c.493G>A | ENSP00000417006.2:p.Glu165Lys | |
| ENST00000520797.5:n.462G>A | ||
| ENST00000521096.5:n.503G>A | ||
| ENST00000522568.1:c.*369G>A | ENSP00000430136.1:n.*369G>A | |
| ENST00000524195.1:n.103+934G>A | ||
| ENST00000524366.5:n.541G>A | ||
| NM_001040875.2:c.493G>A | NP_001035808.1:p.Glu165Lys | |
| NM_018972.2:c.697G>A | NP_061845.2:p.Glu233Lys | |
| NR_046346.1:n.631G>A | ||
| XM_011517551.1:c.991G>A | XP_011515853.1:p.Glu331Lys | |
| XM_011517552.1:c.370G>A | XP_011515854.1:p.Glu124Lys | |
| NM_001040875.3:c.493G>A | NP_001035808.1:p.Glu165Lys | |
| NM_001362929.1:c.370G>A | NP_001349858.1:p.Glu124Lys | |
| NM_001362930.1:c.523G>A | NP_001349859.1:p.Glu175Lys | |
| NM_001362931.1:c.694+934G>A | NP_001349860.1:n.694+934G>A | |
| NM_001362932.1:c.370G>A | NP_001349861.1:p.Glu124Lys | |
| NM_018972.3:c.697G>A | NP_061845.2:p.Glu233Lys | |
| NM_001362931.2:c.694+934G>A | NP_001349860.1:n.694+934G>A | |
| NM_018972.4:c.697G>A MANE Select | NP_061845.2:p.Glu233Lys | |
| NM_001040875.4:c.493G>A | NP_001035808.1:p.Glu165Lys | |
| NM_001362929.2:c.370G>A | NP_001349858.1:p.Glu124Lys | |
| NM_001362930.2:c.523G>A | NP_001349859.1:p.Glu175Lys | |
| NM_001362932.2:c.370G>A | NP_001349861.1:p.Glu124Lys |