Linked Data
ClinVar Variation Id:
508568
dbSNP Id:
rs2270694
ExAC:
1:100949860 G / A
gnomAD v2:
1-100949860-G-A
gnomAD v3:
1-100484304-G-A
gnomAD v4:
1-100484304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100484304G>A , CM000663.2:g.100484304G>A | GRCh38 |
| NC_000001.10:g.100949860G>A , CM000663.1:g.100949860G>A | GRCh37 |
| NC_000001.9:g.100722448G>A | NCBI36 |
| NG_051602.1:g.144290G>A | |
| NG_051602.2:g.144304G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336454.5:c.990G>A MANE Select | ENSP00000336739.3:p.Ser330= | |
| ENST00000361544.11:c.990G>A | ENSP00000354916.6:p.Ser330= | |
| ENST00000370124.8:c.990G>A | ENSP00000359142.3:p.Ser330= | |
| ENST00000635056.2:c.816G>A | ENSP00000489217.1:p.Ser272= | |
| ENST00000644676.1:c.993G>A | ENSP00000494661.1:p.Ser331= | |
| ENST00000644813.1:c.990G>A | ENSP00000496374.1:p.Ser330= | |
| ENST00000644844.1:c.816G>A | ENSP00000494417.1:p.Ser272= | |
| ENST00000646563.1:c.*326G>A | ENSP00000493651.1:n.*326G>A | |
| ENST00000646665.1:c.*639G>A | ENSP00000496153.1:n.*639G>A | |
| ENST00000647005.1:c.816G>A | ENSP00000495617.1:p.Ser272= | |
| ENST00000647203.1:c.949G>A | ENSP00000494551.1:p.Val317Ile | |
| ENST00000336454.3:c.990G>A | ENSP00000336739.3:p.Ser330= | |
| ENST00000361544.10:c.990G>A | ENSP00000354916.6:p.Ser330= | |
| ENST00000370124.7:c.990G>A | ENSP00000359142.3:p.Ser330= | |
| ENST00000635056.1:c.816G>A | ENSP00000489217.1:p.Ser272= | |
| NM_003672.3:c.990G>A | NP_003663.2:p.Ser330= | |
| NM_033312.2:c.990G>A | NP_201569.1:p.Ser330= | |
| NM_033313.2:c.990G>A | NP_201570.1:p.Ser330= | |
| XM_005271294.2:c.993G>A | XP_005271351.1:p.Ser331= | |
| XM_005271296.2:c.993G>A | XP_005271353.1:p.Ser331= | |
| XM_011542340.1:c.993G>A | XP_011540642.1:p.Ser331= | |
| XM_011542341.1:c.954G>A | XP_011540643.1:p.Ser318= | |
| XM_011542342.1:c.990G>A | XP_011540644.1:p.Ser330= | |
| XM_011542343.1:c.855G>A | XP_011540645.1:p.Ser285= | |
| XM_011542344.1:c.816G>A | XP_011540646.1:p.Ser272= | |
| XM_011542345.1:c.606G>A | XP_011540647.1:p.Ser202= | |
| XM_011542346.1:c.993G>A | XP_011540648.1:p.Ser331= | |
| NM_001319210.1:c.990G>A | NP_001306139.1:p.Ser330= | |
| NM_001319211.1:c.816G>A | NP_001306140.1:p.Ser272= | |
| NM_001319212.1:c.111G>A | NP_001306141.1:p.Ser37= | |
| XM_005271294.3:c.993G>A | XP_005271351.1:p.Ser331= | |
| XM_005271296.3:c.993G>A | XP_005271353.1:p.Ser331= | |
| XM_011542340.2:c.993G>A | XP_011540642.1:p.Ser331= | |
| XM_011542341.3:c.954G>A | XP_011540643.1:p.Ser318= | |
| XM_011542345.3:c.606G>A | XP_011540647.1:p.Ser202= | |
| XM_017002646.1:c.993G>A | XP_016858135.1:p.Ser331= | |
| XM_017002647.1:c.990G>A | XP_016858136.1:p.Ser330= | |
| XM_024450503.1:c.816G>A | XP_024306271.1:p.Ser272= | |
| XM_024450504.1:c.111G>A | XP_024306272.1:p.Ser37= | |
| XM_024450505.1:c.111G>A | XP_024306273.1:p.Ser37= | |
| XM_024450506.1:c.111G>A | XP_024306274.1:p.Ser37= | |
| XR_002957887.1:n.1026G>A | ||
| XR_002957888.1:n.1124G>A | ||
| NM_003672.4:c.990G>A MANE Select | NP_003663.2:p.Ser330= | |
| NM_001319210.2:c.990G>A | NP_001306139.1:p.Ser330= | |
| NM_001319211.2:c.816G>A | NP_001306140.1:p.Ser272= | |
| NM_001319212.2:c.111G>A | NP_001306141.1:p.Ser37= | |
| NM_033312.3:c.990G>A | NP_201569.1:p.Ser330= | |
| NM_033313.3:c.990G>A | NP_201570.1:p.Ser330= |