Linked Data
ClinVar Variation Id:
5950
dbSNP Id:
rs113994064
ExAC:
3:183858306 G / A
gnomAD v2:
3-183858306-G-A
gnomAD v3:
3-184140518-G-A
gnomAD v4:
3-184140518-G-A
COSMIC:
COSM4680553
PubMed:
PMID:17646634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184140518G>A , CM000665.2:g.184140518G>A | GRCh38 |
| NC_000003.11:g.183858306G>A , CM000665.1:g.183858306G>A | GRCh37 |
| NC_000003.10:g.185341000G>A | NCBI36 |
| NG_015826.1:g.10497G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.967G>A | ||
| ENST00000468748.7:n.1187G>A | ||
| ENST00000484154.2:n.1387-1407G>A | ||
| ENST00000491008.6:n.1692G>A | ||
| ENST00000492226.2:n.1201G>A | ||
| ENST00000492773.6:c.698G>A | ||
| ENST00000647636.1:c.944G>A | ENSP00000497505.1:p.Arg315His | |
| ENST00000647909.1:c.968G>A | ENSP00000498164.1:p.Arg323His | |
| ENST00000648145.1:c.712G>A | ||
| ENST00000648189.1:c.758G>A | ||
| ENST00000648256.1:c.916G>A | ENSP00000497356.1:n.916G>A | |
| ENST00000648314.1:c.*63G>A | ENSP00000496920.1:n.*63G>A | |
| ENST00000648599.1:c.*227G>A | ENSP00000497159.1:n.*227G>A | |
| ENST00000648630.1:c.938G>A | ENSP00000497887.1:p.Arg313His | |
| ENST00000648682.1:c.944G>A | ENSP00000498185.1:p.Arg315His | |
| ENST00000648882.1:c.*770G>A | ENSP00000497603.1:n.*770G>A | |
| ENST00000648890.1:c.944G>A | ENSP00000497503.1:p.Arg315His | |
| ENST00000648915.2:c.944G>A MANE Select | ENSP00000497160.1:p.Arg315His | |
| ENST00000649545.1:c.577+361G>A | ||
| ENST00000649688.1:c.*227G>A | ENSP00000497097.1:n.*227G>A | |
| ENST00000649814.1:n.993G>A | ||
| ENST00000650270.1:c.811G>A | ||
| ENST00000273783.7:c.944G>A | ENSP00000273783.3:p.Arg315His | |
| ENST00000432982.5:c.246-1719G>A | ||
| ENST00000444495.1:c.944G>A | ENSP00000409142.1:p.Arg315His | |
| ENST00000468748.5:n.657G>A | ||
| ENST00000479833.1:n.260G>A | ||
| ENST00000481054.5:n.1038G>A | ||
| ENST00000491144.5:n.1448G>A | ||
| ENST00000493740.1:n.174G>A | ||
| NM_003907.2:c.944G>A | NP_003898.2:p.Arg315His | |
| XM_011513265.1:c.194G>A | XP_011511567.1:p.Arg65His | |
| XM_011513266.1:c.107G>A | XP_011511568.1:p.Arg36His | |
| XR_924208.1:n.1895G>A | ||
| NM_003907.3:c.944G>A MANE Select | NP_003898.2:p.Arg315His | |
| XM_011513266.3:c.107G>A | XP_011511568.1:p.Arg36His | |
| XR_001740352.2:n.1307G>A | ||
| XR_001740353.2:n.1307G>A | ||
| XR_924208.2:n.1307G>A |