Linked Data
ClinVar Variation Id:
1512541
ClinVar RCV Id:
RCV002023086
dbSNP Id:
rs146603731
ExAC:
17:37881095 C / A
gnomAD v2:
17-37881095-C-A
gnomAD v3:
17-39724842-C-A
gnomAD v4:
17-39724842-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724842C>A , CM000679.2:g.39724842C>A | GRCh38 |
| NC_000017.10:g.37881095C>A , CM000679.1:g.37881095C>A | GRCh37 |
| NC_000017.9:g.35134621C>A | NCBI36 |
| NG_007503.1:g.41703C>A , LRG_724:g.41703C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2424C>A MANE Select | ENSP00000269571.4:p.Asp808Glu | |
| ENST00000269571.9:c.2424C>A | ENSP00000269571.4:p.Asp808Glu | |
| ENST00000406381.6:c.2334C>A | ENSP00000385185.2:p.Asp778Glu | |
| ENST00000445658.6:c.1596C>A | ENSP00000404047.2:p.Asp532Glu | |
| ENST00000541774.5:c.2379C>A | ENSP00000446466.1:p.Asp793Glu | |
| ENST00000578373.5:c.*2214C>A | ENSP00000463427.1:n.*2214C>A | |
| ENST00000580074.1:c.530C>A | ||
| ENST00000583038.5:n.3558C>A | ||
| ENST00000584450.5:c.2424C>A | ENSP00000463714.1:p.Asp808Glu | |
| ENST00000584601.5:c.2334C>A | ENSP00000462438.1:p.Asp778Glu | |
| NM_001005862.2:c.2334C>A , LRG_724t1:c.2334C>A | NP_001005862.1:p.Asp778Glu | |
| NM_001289936.1:c.2379C>A , LRG_724t4:c.2379C>A | NP_001276865.1:p.Asp793Glu | |
| NM_001289937.1:c.2424C>A | NP_001276866.1:p.Asp808Glu | |
| NM_004448.3:c.2424C>A , LRG_724t2:c.2424C>A | NP_004439.2:p.Asp808Glu | |
| NR_110535.1:n.2748C>A | ||
| XM_024450641.1:c.2562C>A | XP_024306409.1:p.Asp854Glu | |
| XM_024450642.1:c.2517C>A | XP_024306410.1:p.Asp839Glu | |
| XM_024450643.1:c.2472C>A | XP_024306411.1:p.Asp824Glu | |
| NM_001005862.3:c.2334C>A | NP_001005862.1:p.Asp778Glu | |
| NM_001289936.2:c.2379C>A | NP_001276865.1:p.Asp793Glu | |
| NM_001289937.2:c.2424C>A | NP_001276866.1:p.Asp808Glu | |
| NM_001382782.1:c.2334C>A | NP_001369711.1:p.Asp778Glu | |
| NM_001382783.1:c.2334C>A | NP_001369712.1:p.Asp778Glu | |
| NM_001382784.1:c.2541C>A | NP_001369713.1:p.Asp847Glu | |
| NM_001382785.1:c.2526C>A | NP_001369714.1:p.Asp842Glu | |
| NM_001382786.1:c.2505C>A | NP_001369715.1:p.Asp835Glu | |
| NM_001382787.1:c.2499C>A | NP_001369716.1:p.Asp833Glu | |
| NM_001382788.1:c.2454C>A | NP_001369717.1:p.Asp818Glu | |
| NM_001382789.1:c.2445C>A | NP_001369718.1:p.Asp815Glu | |
| NM_001382790.1:c.2421C>A | NP_001369719.1:p.Asp807Glu | |
| NM_001382791.1:c.2415C>A | NP_001369720.1:p.Asp805Glu | |
| NM_001382792.1:c.2388C>A | NP_001369721.1:p.Asp796Glu | |
| NM_001382793.1:c.2382C>A | NP_001369722.1:p.Asp794Glu | |
| NM_001382794.1:c.2382C>A | NP_001369723.1:p.Asp794Glu | |
| NM_001382795.1:c.2376C>A | NP_001369724.1:p.Asp792Glu | |
| NM_001382796.1:c.2424C>A | NP_001369725.1:p.Asp808Glu | |
| NM_001382797.1:c.2325C>A | NP_001369726.1:p.Asp775Glu | |
| NM_001382798.1:c.2424C>A | NP_001369727.1:p.Asp808Glu | |
| NM_001382799.1:c.2244C>A | NP_001369728.1:p.Asp748Glu | |
| NM_001382800.1:c.2308-207C>A | NP_001369729.1:n.2308-207C>A | |
| NM_001382801.1:c.2376C>A | NP_001369730.1:p.Asp792Glu | |
| NM_001382802.1:c.2166C>A | NP_001369731.1:p.Asp722Glu | |
| NM_001382803.1:c.2382C>A | NP_001369732.1:p.Asp794Glu | |
| NM_001382804.1:c.1596C>A | NP_001369733.1:p.Asp532Glu | |
| NM_001382805.1:c.2208+1182C>A | NP_001369734.1:n.2208+1182C>A | |
| NM_001382806.1:c.1386C>A | NP_001369735.1:p.Asp462Glu | |
| NM_004448.4:c.2424C>A MANE Select | NP_004439.2:p.Asp808Glu | |
| NR_110535.2:n.2662C>A |