Linked Data
ClinVar Variation Id:
3087904
ClinVar RCV Id:
RCV004377737
dbSNP Id:
rs1289602056
gnomAD v2:
3-183855697-A-G
gnomAD v3:
3-184137909-A-G
gnomAD v4:
3-184137909-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137909A>G , CM000665.2:g.184137909A>G | GRCh38 |
| NC_000003.11:g.183855697A>G , CM000665.1:g.183855697A>G | GRCh37 |
| NC_000003.10:g.185338391A>G | NCBI36 |
| NG_015826.1:g.7888A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.541A>G | ||
| ENST00000468748.7:n.501A>G | ||
| ENST00000484154.2:n.1139A>G | ||
| ENST00000491008.6:n.1266A>G | ||
| ENST00000492226.2:n.515A>G | ||
| ENST00000492773.6:c.250A>G | ||
| ENST00000647636.1:c.518A>G | ENSP00000497505.1:p.Lys173Arg | |
| ENST00000647909.1:c.542A>G | ENSP00000498164.1:p.Lys181Arg | |
| ENST00000648145.1:c.286A>G | ||
| ENST00000648189.1:c.268A>G | ||
| ENST00000648256.1:c.467A>G | ENSP00000497356.1:p.Lys156Arg | |
| ENST00000648314.1:c.518A>G | ENSP00000496920.1:p.Lys173Arg | |
| ENST00000648599.1:c.518A>G | ENSP00000497159.1:p.Lys173Arg | |
| ENST00000648630.1:c.512A>G | ENSP00000497887.1:p.Lys171Arg | |
| ENST00000648682.1:c.518A>G | ENSP00000498185.1:p.Lys173Arg | |
| ENST00000648882.1:c.*344A>G | ENSP00000497603.1:n.*344A>G | |
| ENST00000648890.1:c.518A>G | ENSP00000497503.1:p.Lys173Arg | |
| ENST00000648915.2:c.518A>G MANE Select | ENSP00000497160.1:p.Lys173Arg | |
| ENST00000649545.1:c.252A>G | ||
| ENST00000649688.1:c.518A>G | ENSP00000497097.1:p.Lys173Arg | |
| ENST00000649814.1:n.567A>G | ||
| ENST00000650244.1:c.663A>G | ENSP00000497227.1:n.663A>G | |
| ENST00000650270.1:c.385A>G | ||
| ENST00000273783.7:c.518A>G | ENSP00000273783.3:p.Lys173Arg | |
| ENST00000432982.5:c.245+1234A>G | ||
| ENST00000444495.1:c.518A>G | ENSP00000409142.1:p.Lys173Arg | |
| ENST00000481054.5:n.519A>G | ||
| ENST00000491008.5:n.482A>G | ||
| ENST00000491144.5:n.958A>G | ||
| ENST00000498831.1:n.473A>G | ||
| NM_003907.2:c.518A>G | NP_003898.2:p.Lys173Arg | |
| XR_924208.1:n.1469A>G | ||
| NM_003907.3:c.518A>G MANE Select | NP_003898.2:p.Lys173Arg | |
| XM_011513266.3:c.-384A>G | XP_011511568.1:n.-384A>G | |
| XR_001740352.2:n.881A>G | ||
| XR_001740353.2:n.881A>G | ||
| XR_924208.2:n.881A>G |