Linked Data
ClinVar Variation Id:
234243
dbSNP Id:
rs369843642
gnomAD v2:
17-59761071-A-T
gnomAD v4:
17-61683710-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683710A>T , CM000679.2:g.61683710A>T | GRCh38 |
| NC_000017.10:g.59761071A>T , CM000679.1:g.59761071A>T | GRCh37 |
| NC_000017.9:g.57115853A>T | NCBI36 |
| NG_007409.2:g.184850T>A , LRG_300:g.184850T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2076T>A | ||
| ENST00000682453.1:c.3336T>A | ENSP00000506943.1:p.Asp1112Glu | |
| ENST00000682477.1:c.*2762T>A | ENSP00000507075.1:n.*2762T>A | |
| ENST00000682589.1:n.9213T>A | ||
| ENST00000682755.1:c.3114T>A | ENSP00000507660.1:p.Asp1038Glu | |
| ENST00000682989.1:c.*427T>A | ENSP00000507786.1:n.*427T>A | |
| ENST00000683039.1:c.3336T>A | ENSP00000508303.1:p.Asp1112Glu | |
| ENST00000683235.1:c.*751T>A | ENSP00000507646.1:n.*751T>A | |
| ENST00000683535.1:n.1466T>A | ||
| ENST00000684584.1:c.2499T>A | ENSP00000508044.1:p.Asp833Glu | |
| ENST00000684626.1:n.1582T>A | ||
| ENST00000684769.1:c.1526T>A | ENSP00000507691.1:n.1526T>A | |
| ENST00000259008.7:c.3336T>A MANE Select | ENSP00000259008.2:p.Asp1112Glu | |
| ENST00000259008.6:c.3336T>A | ENSP00000259008.2:p.Asp1112Glu | |
| NM_032043.2:c.3336T>A , LRG_300t1:c.3336T>A | NP_114432.2:p.Asp1112Glu | |
| XM_011525332.1:c.3396T>A | XP_011523634.1:p.Asp1132Glu | |
| XM_011525333.1:c.3396T>A | XP_011523635.1:p.Asp1132Glu | |
| XM_011525334.1:c.3396T>A | XP_011523636.1:p.Asp1132Glu | |
| XM_011525335.1:c.3336T>A | XP_011523637.1:p.Asp1112Glu | |
| XM_011525336.1:c.3276T>A | XP_011523638.1:p.Asp1092Glu | |
| XM_011525337.1:c.3195T>A | XP_011523639.1:p.Asp1065Glu | |
| XM_011525338.1:c.2913T>A | XP_011523640.1:p.Asp971Glu | |
| XM_011525332.3:c.3396T>A | XP_011523634.1:p.Asp1132Glu | |
| XM_011525333.3:c.3396T>A | XP_011523635.1:p.Asp1132Glu | |
| XM_011525334.2:c.3396T>A | XP_011523636.1:p.Asp1132Glu | |
| XM_011525335.3:c.3336T>A | XP_011523637.1:p.Asp1112Glu | |
| XM_011525336.2:c.3276T>A | XP_011523638.1:p.Asp1092Glu | |
| XM_011525337.2:c.3195T>A | XP_011523639.1:p.Asp1065Glu | |
| XM_011525338.2:c.2913T>A | XP_011523640.1:p.Asp971Glu | |
| XM_017025200.1:c.2853T>A | XP_016880689.1:p.Asp951Glu | |
| XM_017025201.1:c.2853T>A | XP_016880690.1:p.Asp951Glu | |
| XM_017025202.1:c.1482T>A | XP_016880691.1:p.Asp494Glu | |
| XM_017025203.1:c.1482T>A | XP_016880692.1:p.Asp494Glu | |
| NM_032043.3:c.3336T>A MANE Select | NP_114432.2:p.Asp1112Glu |