Linked Data
ClinVar Variation Id:
2025783
ClinVar RCV Id:
RCV002853411
MyVariant Identifiers:
chr3:g.183855827G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138039G>A , CM000665.2:g.184138039G>A | GRCh38 |
| NC_000003.11:g.183855827G>A , CM000665.1:g.183855827G>A | GRCh37 |
| NC_000003.10:g.185338521G>A | NCBI36 |
| NG_015826.1:g.8018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.671G>A | ||
| ENST00000468748.7:n.631G>A | ||
| ENST00000484154.2:n.1269G>A | ||
| ENST00000491008.6:n.1396G>A | ||
| ENST00000492226.2:n.645G>A | ||
| ENST00000492773.6:c.380G>A | ||
| ENST00000647636.1:c.648G>A | ENSP00000497505.1:p.Gln216= | |
| ENST00000647909.1:c.672G>A | ENSP00000498164.1:p.Gln224= | |
| ENST00000648145.1:c.416G>A | ||
| ENST00000648189.1:c.398G>A | ||
| ENST00000648256.1:c.597G>A | ENSP00000497356.1:p.Gln199= | |
| ENST00000648314.1:c.648G>A | ENSP00000496920.1:p.Gln216= | |
| ENST00000648599.1:c.648G>A | ENSP00000497159.1:p.Gln216= | |
| ENST00000648630.1:c.642G>A | ENSP00000497887.1:p.Gln214= | |
| ENST00000648682.1:c.648G>A | ENSP00000498185.1:p.Gln216= | |
| ENST00000648882.1:c.*474G>A | ENSP00000497603.1:n.*474G>A | |
| ENST00000648890.1:c.648G>A | ENSP00000497503.1:p.Gln216= | |
| ENST00000648915.2:c.648G>A MANE Select | ENSP00000497160.1:p.Gln216= | |
| ENST00000649545.1:c.382G>A | ||
| ENST00000649688.1:c.648G>A | ENSP00000497097.1:p.Gln216= | |
| ENST00000649814.1:n.697G>A | ||
| ENST00000650270.1:c.515G>A | ||
| ENST00000273783.7:c.648G>A | ENSP00000273783.3:p.Gln216= | |
| ENST00000432982.5:c.245+1364G>A | ||
| ENST00000444495.1:c.648G>A | ENSP00000409142.1:p.Gln216= | |
| ENST00000468748.5:n.101G>A | ||
| ENST00000481054.5:n.649G>A | ||
| ENST00000491008.5:n.612G>A | ||
| ENST00000491144.5:n.1088G>A | ||
| NM_003907.2:c.648G>A | NP_003898.2:p.Gln216= | |
| XR_924208.1:n.1599G>A | ||
| NM_003907.3:c.648G>A MANE Select | NP_003898.2:p.Gln216= | |
| XM_011513266.3:c.-254G>A | XP_011511568.1:n.-254G>A | |
| XR_001740352.2:n.1011G>A | ||
| XR_001740353.2:n.1011G>A | ||
| XR_924208.2:n.1011G>A |