Linked Data
ClinVar Variation Id:
142900
dbSNP Id:
rs587782808
ExAC:
17:59761343 C / T
gnomAD v2:
17-59761343-C-T
gnomAD v3:
17-61683982-C-T
gnomAD v4:
17-61683982-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683982C>T , CM000679.2:g.61683982C>T | GRCh38 |
| NC_000017.10:g.59761343C>T , CM000679.1:g.59761343C>T | GRCh37 |
| NC_000017.9:g.57116125C>T | NCBI36 |
| NG_007409.2:g.184578G>A , LRG_300:g.184578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1804G>A | ||
| ENST00000682453.1:c.3064G>A | ENSP00000506943.1:p.Glu1022Lys | |
| ENST00000682477.1:c.*2490G>A | ENSP00000507075.1:n.*2490G>A | |
| ENST00000682589.1:n.8941G>A | ||
| ENST00000682755.1:c.2842G>A | ENSP00000507660.1:p.Glu948Lys | |
| ENST00000682989.1:c.*155G>A | ENSP00000507786.1:n.*155G>A | |
| ENST00000683039.1:c.3064G>A | ENSP00000508303.1:p.Glu1022Lys | |
| ENST00000683235.1:c.*479G>A | ENSP00000507646.1:n.*479G>A | |
| ENST00000683535.1:n.1194G>A | ||
| ENST00000684584.1:c.2227G>A | ENSP00000508044.1:p.Glu743Lys | |
| ENST00000684626.1:n.1310G>A | ||
| ENST00000684769.1:c.1254G>A | ENSP00000507691.1:n.1254G>A | |
| ENST00000259008.7:c.3064G>A MANE Select | ENSP00000259008.2:p.Glu1022Lys | |
| ENST00000259008.6:c.3064G>A | ENSP00000259008.2:p.Glu1022Lys | |
| NM_032043.2:c.3064G>A , LRG_300t1:c.3064G>A | NP_114432.2:p.Glu1022Lys | |
| XM_011525332.1:c.3124G>A | XP_011523634.1:p.Glu1042Lys | |
| XM_011525333.1:c.3124G>A | XP_011523635.1:p.Glu1042Lys | |
| XM_011525334.1:c.3124G>A | XP_011523636.1:p.Glu1042Lys | |
| XM_011525335.1:c.3064G>A | XP_011523637.1:p.Glu1022Lys | |
| XM_011525336.1:c.3004G>A | XP_011523638.1:p.Glu1002Lys | |
| XM_011525337.1:c.2923G>A | XP_011523639.1:p.Glu975Lys | |
| XM_011525338.1:c.2641G>A | XP_011523640.1:p.Glu881Lys | |
| XM_011525332.3:c.3124G>A | XP_011523634.1:p.Glu1042Lys | |
| XM_011525333.3:c.3124G>A | XP_011523635.1:p.Glu1042Lys | |
| XM_011525334.2:c.3124G>A | XP_011523636.1:p.Glu1042Lys | |
| XM_011525335.3:c.3064G>A | XP_011523637.1:p.Glu1022Lys | |
| XM_011525336.2:c.3004G>A | XP_011523638.1:p.Glu1002Lys | |
| XM_011525337.2:c.2923G>A | XP_011523639.1:p.Glu975Lys | |
| XM_011525338.2:c.2641G>A | XP_011523640.1:p.Glu881Lys | |
| XM_017025200.1:c.2581G>A | XP_016880689.1:p.Glu861Lys | |
| XM_017025201.1:c.2581G>A | XP_016880690.1:p.Glu861Lys | |
| XM_017025202.1:c.1210G>A | XP_016880691.1:p.Glu404Lys | |
| XM_017025203.1:c.1210G>A | XP_016880692.1:p.Glu404Lys | |
| NM_032043.3:c.3064G>A MANE Select | NP_114432.2:p.Glu1022Lys |