Linked Data
dbSNP Id:
rs1713446482
gnomAD v3:
3-184138057-G-A
gnomAD v4:
3-184138057-G-A
MyVariant Identifiers:
chr3:g.183855845G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138057G>A , CM000665.2:g.184138057G>A | GRCh38 |
| NC_000003.11:g.183855845G>A , CM000665.1:g.183855845G>A | GRCh37 |
| NC_000003.10:g.185338539G>A | NCBI36 |
| NG_015826.1:g.8036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.689G>A | ||
| ENST00000468748.7:n.649G>A | ||
| ENST00000484154.2:n.1287G>A | ||
| ENST00000491008.6:n.1414G>A | ||
| ENST00000492226.2:n.663G>A | ||
| ENST00000492773.6:c.398G>A | ||
| ENST00000647636.1:c.666G>A | ENSP00000497505.1:p.Arg222= | |
| ENST00000647909.1:c.690G>A | ENSP00000498164.1:p.Arg230= | |
| ENST00000648145.1:c.434G>A | ||
| ENST00000648189.1:c.416G>A | ||
| ENST00000648256.1:c.615G>A | ENSP00000497356.1:p.Arg205= | |
| ENST00000648314.1:c.666G>A | ENSP00000496920.1:p.Arg222= | |
| ENST00000648599.1:c.666G>A | ENSP00000497159.1:p.Arg222= | |
| ENST00000648630.1:c.660G>A | ENSP00000497887.1:p.Arg220= | |
| ENST00000648682.1:c.666G>A | ENSP00000498185.1:p.Arg222= | |
| ENST00000648882.1:c.*492G>A | ENSP00000497603.1:n.*492G>A | |
| ENST00000648890.1:c.666G>A | ENSP00000497503.1:p.Arg222= | |
| ENST00000648915.2:c.666G>A MANE Select | ENSP00000497160.1:p.Arg222= | |
| ENST00000649545.1:c.400G>A | ||
| ENST00000649688.1:c.666G>A | ENSP00000497097.1:p.Arg222= | |
| ENST00000649814.1:n.715G>A | ||
| ENST00000650270.1:c.533G>A | ||
| ENST00000273783.7:c.666G>A | ENSP00000273783.3:p.Arg222= | |
| ENST00000432982.5:c.245+1382G>A | ||
| ENST00000444495.1:c.666G>A | ENSP00000409142.1:p.Arg222= | |
| ENST00000468748.5:n.119G>A | ||
| ENST00000481054.5:n.667G>A | ||
| ENST00000491008.5:n.630G>A | ||
| ENST00000491144.5:n.1106G>A | ||
| NM_003907.2:c.666G>A | NP_003898.2:p.Arg222= | |
| XR_924208.1:n.1617G>A | ||
| NM_003907.3:c.666G>A MANE Select | NP_003898.2:p.Arg222= | |
| XM_011513266.3:c.-236G>A | XP_011511568.1:n.-236G>A | |
| XR_001740352.2:n.1029G>A | ||
| XR_001740353.2:n.1029G>A | ||
| XR_924208.2:n.1029G>A |