Linked Data
ClinVar Variation Id:
2950379
ClinVar RCV Id:
RCV003809689
dbSNP Id:
rs776002434
ExAC:
17:59761283 C / T
gnomAD v2:
17-59761283-C-T
gnomAD v4:
17-61683922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683922C>T , CM000679.2:g.61683922C>T | GRCh38 |
| NC_000017.10:g.59761283C>T , CM000679.1:g.59761283C>T | GRCh37 |
| NC_000017.9:g.57116065C>T | NCBI36 |
| NG_007409.2:g.184638G>A , LRG_300:g.184638G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1864G>A | ||
| ENST00000682453.1:c.3124G>A | ENSP00000506943.1:p.Glu1042Lys | |
| ENST00000682477.1:c.*2550G>A | ENSP00000507075.1:n.*2550G>A | |
| ENST00000682589.1:n.9001G>A | ||
| ENST00000682755.1:c.2902G>A | ENSP00000507660.1:p.Glu968Lys | |
| ENST00000682989.1:c.*215G>A | ENSP00000507786.1:n.*215G>A | |
| ENST00000683039.1:c.3124G>A | ENSP00000508303.1:p.Glu1042Lys | |
| ENST00000683235.1:c.*539G>A | ENSP00000507646.1:n.*539G>A | |
| ENST00000683535.1:n.1254G>A | ||
| ENST00000684584.1:c.2287G>A | ENSP00000508044.1:p.Glu763Lys | |
| ENST00000684626.1:n.1370G>A | ||
| ENST00000684769.1:c.1314G>A | ENSP00000507691.1:n.1314G>A | |
| ENST00000259008.7:c.3124G>A MANE Select | ENSP00000259008.2:p.Glu1042Lys | |
| ENST00000259008.6:c.3124G>A | ENSP00000259008.2:p.Glu1042Lys | |
| NM_032043.2:c.3124G>A , LRG_300t1:c.3124G>A | NP_114432.2:p.Glu1042Lys | |
| XM_011525332.1:c.3184G>A | XP_011523634.1:p.Glu1062Lys | |
| XM_011525333.1:c.3184G>A | XP_011523635.1:p.Glu1062Lys | |
| XM_011525334.1:c.3184G>A | XP_011523636.1:p.Glu1062Lys | |
| XM_011525335.1:c.3124G>A | XP_011523637.1:p.Glu1042Lys | |
| XM_011525336.1:c.3064G>A | XP_011523638.1:p.Glu1022Lys | |
| XM_011525337.1:c.2983G>A | XP_011523639.1:p.Glu995Lys | |
| XM_011525338.1:c.2701G>A | XP_011523640.1:p.Glu901Lys | |
| XM_011525332.3:c.3184G>A | XP_011523634.1:p.Glu1062Lys | |
| XM_011525333.3:c.3184G>A | XP_011523635.1:p.Glu1062Lys | |
| XM_011525334.2:c.3184G>A | XP_011523636.1:p.Glu1062Lys | |
| XM_011525335.3:c.3124G>A | XP_011523637.1:p.Glu1042Lys | |
| XM_011525336.2:c.3064G>A | XP_011523638.1:p.Glu1022Lys | |
| XM_011525337.2:c.2983G>A | XP_011523639.1:p.Glu995Lys | |
| XM_011525338.2:c.2701G>A | XP_011523640.1:p.Glu901Lys | |
| XM_017025200.1:c.2641G>A | XP_016880689.1:p.Glu881Lys | |
| XM_017025201.1:c.2641G>A | XP_016880690.1:p.Glu881Lys | |
| XM_017025202.1:c.1270G>A | XP_016880691.1:p.Glu424Lys | |
| XM_017025203.1:c.1270G>A | XP_016880692.1:p.Glu424Lys | |
| NM_032043.3:c.3124G>A MANE Select | NP_114432.2:p.Glu1042Lys |