Linked Data
ClinVar Variation Id:
5945
dbSNP Id:
rs113994049
ExAC:
3:183855425 G / A
gnomAD v2:
3-183855425-G-A
gnomAD v3:
3-184137637-G-A
gnomAD v4:
3-184137637-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137637G>A , CM000665.2:g.184137637G>A | GRCh38 |
| NC_000003.11:g.183855425G>A , CM000665.1:g.183855425G>A | GRCh37 |
| NC_000003.10:g.185338119G>A | NCBI36 |
| NG_015826.1:g.7616G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.361G>A | ||
| ENST00000468748.7:n.321G>A | ||
| ENST00000484154.2:n.959G>A | ||
| ENST00000491008.6:n.1086G>A | ||
| ENST00000492226.2:n.335G>A | ||
| ENST00000492773.6:c.70G>A | ||
| ENST00000647636.1:c.338G>A | ENSP00000497505.1:p.Arg113His | |
| ENST00000647909.1:c.338G>A | ENSP00000498164.1:p.Arg113His | |
| ENST00000648145.1:c.106G>A | ||
| ENST00000648189.1:c.88G>A | ||
| ENST00000648256.1:c.287G>A | ENSP00000497356.1:p.Arg96His | |
| ENST00000648314.1:c.338G>A | ENSP00000496920.1:p.Arg113His | |
| ENST00000648599.1:c.338G>A | ENSP00000497159.1:p.Arg113His | |
| ENST00000648630.1:c.332G>A | ENSP00000497887.1:p.Arg111His | |
| ENST00000648682.1:c.338G>A | ENSP00000498185.1:p.Arg113His | |
| ENST00000648882.1:c.*164G>A | ENSP00000497603.1:n.*164G>A | |
| ENST00000648890.1:c.338G>A | ENSP00000497503.1:p.Arg113His | |
| ENST00000648915.2:c.338G>A MANE Select | ENSP00000497160.1:p.Arg113His | |
| ENST00000649545.1:c.72G>A | ||
| ENST00000649688.1:c.338G>A | ENSP00000497097.1:p.Arg113His | |
| ENST00000649814.1:n.387G>A | ||
| ENST00000650244.1:c.483G>A | ENSP00000497227.1:n.483G>A | |
| ENST00000650270.1:c.205G>A | ||
| ENST00000273783.7:c.338G>A | ENSP00000273783.3:p.Arg113His | |
| ENST00000432982.5:c.245+962G>A | ||
| ENST00000444495.1:c.338G>A | ENSP00000409142.1:p.Arg113His | |
| ENST00000481054.5:n.339G>A | ||
| ENST00000491008.5:n.302G>A | ||
| ENST00000491144.5:n.686G>A | ||
| ENST00000498831.1:n.293G>A | ||
| NM_003907.2:c.338G>A | NP_003898.2:p.Arg113His | |
| XR_924208.1:n.1289G>A | ||
| NM_003907.3:c.338G>A MANE Select | NP_003898.2:p.Arg113His | |
| XM_011513266.3:c.-564G>A | XP_011511568.1:n.-564G>A | |
| XR_001740352.2:n.701G>A | ||
| XR_001740353.2:n.701G>A | ||
| XR_924208.2:n.701G>A |