Linked Data
ClinVar Variation Id:
1474424
dbSNP Id:
rs754042296
ExAC:
20:34051413 G / A
gnomAD v2:
20-34051413-G-A
gnomAD v3:
20-35463588-G-A
gnomAD v4:
20-35463588-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35463588G>A , CM000682.2:g.35463588G>A | GRCh38 |
| NC_000020.10:g.34051413G>A , CM000682.1:g.34051413G>A | GRCh37 |
| NC_000020.9:g.33514827G>A | NCBI36 |
| NG_051604.1:g.13451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706827.1:c.200G>A | ENSP00000516575.1:p.Arg67Gln | |
| ENST00000706828.1:c.200G>A | ENSP00000516576.1:p.Arg67Gln | |
| ENST00000706829.1:c.200G>A | ENSP00000516577.1:p.Arg67Gln | |
| ENST00000706830.1:c.200G>A | ENSP00000516578.1:p.Arg67Gln | |
| ENST00000397527.6:c.200G>A MANE Select | ENSP00000380661.1:p.Arg67Gln | |
| ENST00000397524.5:c.200G>A | ENSP00000380658.1:p.Arg67Gln | |
| ENST00000397527.5:c.200G>A | ENSP00000380661.1:p.Arg67Gln | |
| ENST00000420564.5:c.200G>A | ENSP00000414651.1:p.Arg67Gln | |
| ENST00000425934.5:c.200G>A | ENSP00000413827.1:p.Arg67Gln | |
| ENST00000446710.5:c.200G>A | ENSP00000398747.1:p.Arg67Gln | |
| ENST00000461386.5:c.200G>A | ENSP00000419137.1:p.Arg67Gln | |
| NM_007186.4:c.200G>A | NP_009117.2:p.Arg67Gln | |
| XM_005260262.3:c.200G>A | XP_005260319.1:p.Arg67Gln | |
| XM_005260263.3:c.200G>A | XP_005260320.1:p.Arg67Gln | |
| XM_005260264.3:c.200G>A | XP_005260321.1:p.Arg67Gln | |
| XM_005260265.2:c.-1700G>A | XP_005260322.1:n.-1700G>A | |
| XM_006723690.2:c.200G>A | XP_006723753.1:p.Arg67Gln | |
| XM_006723691.1:c.200G>A | XP_006723754.1:p.Arg67Gln | |
| XM_006723692.2:c.200G>A | XP_006723755.1:p.Arg67Gln | |
| XM_006723693.2:c.200G>A | XP_006723756.1:p.Arg67Gln | |
| XM_006723694.2:c.200G>A | XP_006723757.1:p.Arg67Gln | |
| XM_006723695.2:c.200G>A | XP_006723758.1:p.Arg67Gln | |
| XM_011528517.1:c.200G>A | XP_011526819.1:p.Arg67Gln | |
| XM_011528518.1:c.-175G>A | XP_011526820.1:n.-175G>A | |
| XM_011528520.1:c.200G>A | XP_011526822.1:p.Arg67Gln | |
| NM_001318219.1:c.-1700G>A | NP_001305148.1:n.-1700G>A | |
| NM_007186.5:c.200G>A | NP_009117.2:p.Arg67Gln | |
| XM_005260262.4:c.200G>A | XP_005260319.1:p.Arg67Gln | |
| XM_005260263.4:c.200G>A | XP_005260320.1:p.Arg67Gln | |
| XM_005260264.4:c.200G>A | XP_005260321.1:p.Arg67Gln | |
| XM_006723690.4:c.200G>A | XP_006723753.1:p.Arg67Gln | |
| XM_006723692.4:c.200G>A | XP_006723755.1:p.Arg67Gln | |
| XM_006723693.4:c.200G>A | XP_006723756.1:p.Arg67Gln | |
| XM_006723694.3:c.200G>A | XP_006723757.1:p.Arg67Gln | |
| XM_011528517.2:c.200G>A | XP_011526819.1:p.Arg67Gln | |
| XM_011528518.3:c.-175G>A | XP_011526820.1:n.-175G>A | |
| XM_017027617.1:c.200G>A | XP_016883106.1:p.Arg67Gln | |
| XR_001754145.1:n.601G>A | ||
| NM_007186.6:c.200G>A MANE Select | NP_009117.2:p.Arg67Gln |