Linked Data
ClinVar Variation Id:
2201006
dbSNP Id:
rs199920839
ExAC:
3:183855694 G / A
gnomAD v2:
3-183855694-G-A
gnomAD v3:
3-184137906-G-A
gnomAD v4:
3-184137906-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137906G>A , CM000665.2:g.184137906G>A | GRCh38 |
| NC_000003.11:g.183855694G>A , CM000665.1:g.183855694G>A | GRCh37 |
| NC_000003.10:g.185338388G>A | NCBI36 |
| NG_015826.1:g.7885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.538G>A | ||
| ENST00000468748.7:n.498G>A | ||
| ENST00000484154.2:n.1136G>A | ||
| ENST00000491008.6:n.1263G>A | ||
| ENST00000492226.2:n.512G>A | ||
| ENST00000492773.6:c.247G>A | ||
| ENST00000647636.1:c.515G>A | ENSP00000497505.1:p.Arg172Gln | |
| ENST00000647909.1:c.539G>A | ENSP00000498164.1:p.Arg180Gln | |
| ENST00000648145.1:c.283G>A | ||
| ENST00000648189.1:c.265G>A | ||
| ENST00000648256.1:c.464G>A | ENSP00000497356.1:p.Arg155Gln | |
| ENST00000648314.1:c.515G>A | ENSP00000496920.1:p.Arg172Gln | |
| ENST00000648599.1:c.515G>A | ENSP00000497159.1:p.Arg172Gln | |
| ENST00000648630.1:c.509G>A | ENSP00000497887.1:p.Arg170Gln | |
| ENST00000648682.1:c.515G>A | ENSP00000498185.1:p.Arg172Gln | |
| ENST00000648882.1:c.*341G>A | ENSP00000497603.1:n.*341G>A | |
| ENST00000648890.1:c.515G>A | ENSP00000497503.1:p.Arg172Gln | |
| ENST00000648915.2:c.515G>A MANE Select | ENSP00000497160.1:p.Arg172Gln | |
| ENST00000649545.1:c.249G>A | ||
| ENST00000649688.1:c.515G>A | ENSP00000497097.1:p.Arg172Gln | |
| ENST00000649814.1:n.564G>A | ||
| ENST00000650244.1:c.660G>A | ENSP00000497227.1:n.660G>A | |
| ENST00000650270.1:c.382G>A | ||
| ENST00000273783.7:c.515G>A | ENSP00000273783.3:p.Arg172Gln | |
| ENST00000432982.5:c.245+1231G>A | ||
| ENST00000444495.1:c.515G>A | ENSP00000409142.1:p.Arg172Gln | |
| ENST00000481054.5:n.516G>A | ||
| ENST00000491008.5:n.479G>A | ||
| ENST00000491144.5:n.955G>A | ||
| ENST00000498831.1:n.470G>A | ||
| NM_003907.2:c.515G>A | NP_003898.2:p.Arg172Gln | |
| XR_924208.1:n.1466G>A | ||
| NM_003907.3:c.515G>A MANE Select | NP_003898.2:p.Arg172Gln | |
| XM_011513266.3:c.-387G>A | XP_011511568.1:n.-387G>A | |
| XR_001740352.2:n.878G>A | ||
| XR_001740353.2:n.878G>A | ||
| XR_924208.2:n.878G>A |