Linked Data
ClinVar Variation Id:
5946
ClinVar RCV Id:
RCV003221412
dbSNP Id:
rs113994054
ExAC:
3:183855763 G / A
gnomAD v2:
3-183855763-G-A
gnomAD v3:
3-184137975-G-A
gnomAD v4:
3-184137975-G-A
PubMed:
PMID:12325082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137975G>A , CM000665.2:g.184137975G>A | GRCh38 |
| NC_000003.11:g.183855763G>A , CM000665.1:g.183855763G>A | GRCh37 |
| NC_000003.10:g.185338457G>A | NCBI36 |
| NG_015826.1:g.7954G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.607G>A | ||
| ENST00000468748.7:n.567G>A | ||
| ENST00000484154.2:n.1205G>A | ||
| ENST00000491008.6:n.1332G>A | ||
| ENST00000492226.2:n.581G>A | ||
| ENST00000492773.6:c.316G>A | ||
| ENST00000647636.1:c.584G>A | ENSP00000497505.1:p.Arg195His | |
| ENST00000647909.1:c.608G>A | ENSP00000498164.1:p.Arg203His | |
| ENST00000648145.1:c.352G>A | ||
| ENST00000648189.1:c.334G>A | ||
| ENST00000648256.1:c.533G>A | ENSP00000497356.1:p.Arg178His | |
| ENST00000648314.1:c.584G>A | ENSP00000496920.1:p.Arg195His | |
| ENST00000648599.1:c.584G>A | ENSP00000497159.1:p.Arg195His | |
| ENST00000648630.1:c.578G>A | ENSP00000497887.1:p.Arg193His | |
| ENST00000648682.1:c.584G>A | ENSP00000498185.1:p.Arg195His | |
| ENST00000648882.1:c.*410G>A | ENSP00000497603.1:n.*410G>A | |
| ENST00000648890.1:c.584G>A | ENSP00000497503.1:p.Arg195His | |
| ENST00000648915.2:c.584G>A MANE Select | ENSP00000497160.1:p.Arg195His | |
| ENST00000649545.1:c.318G>A | ||
| ENST00000649688.1:c.584G>A | ENSP00000497097.1:p.Arg195His | |
| ENST00000649814.1:n.633G>A | ||
| ENST00000650270.1:c.451G>A | ||
| ENST00000273783.7:c.584G>A | ENSP00000273783.3:p.Arg195His | |
| ENST00000432982.5:c.245+1300G>A | ||
| ENST00000444495.1:c.584G>A | ENSP00000409142.1:p.Arg195His | |
| ENST00000468748.5:n.37G>A | ||
| ENST00000481054.5:n.585G>A | ||
| ENST00000491008.5:n.548G>A | ||
| ENST00000491144.5:n.1024G>A | ||
| ENST00000498831.1:n.539G>A | ||
| NM_003907.2:c.584G>A | NP_003898.2:p.Arg195His | |
| XR_924208.1:n.1535G>A | ||
| NM_003907.3:c.584G>A MANE Select | NP_003898.2:p.Arg195His | |
| XM_011513266.3:c.-318G>A | XP_011511568.1:n.-318G>A | |
| XR_001740352.2:n.947G>A | ||
| XR_001740353.2:n.947G>A | ||
| XR_924208.2:n.947G>A |