Linked Data
ClinVar Variation Id:
2808716
ClinVar RCV Id:
RCV003677109
MyVariant Identifiers:
chr3:g.183855791T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138003T>A , CM000665.2:g.184138003T>A | GRCh38 |
| NC_000003.11:g.183855791T>A , CM000665.1:g.183855791T>A | GRCh37 |
| NC_000003.10:g.185338485T>A | NCBI36 |
| NG_015826.1:g.7982T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.635T>A | ||
| ENST00000468748.7:n.595T>A | ||
| ENST00000484154.2:n.1233T>A | ||
| ENST00000491008.6:n.1360T>A | ||
| ENST00000492226.2:n.609T>A | ||
| ENST00000492773.6:c.344T>A | ||
| ENST00000647636.1:c.612T>A | ENSP00000497505.1:p.Ala204= | |
| ENST00000647909.1:c.636T>A | ENSP00000498164.1:p.Ala212= | |
| ENST00000648145.1:c.380T>A | ||
| ENST00000648189.1:c.362T>A | ||
| ENST00000648256.1:c.561T>A | ENSP00000497356.1:p.Ala187= | |
| ENST00000648314.1:c.612T>A | ENSP00000496920.1:p.Ala204= | |
| ENST00000648599.1:c.612T>A | ENSP00000497159.1:p.Ala204= | |
| ENST00000648630.1:c.606T>A | ENSP00000497887.1:p.Ala202= | |
| ENST00000648682.1:c.612T>A | ENSP00000498185.1:p.Ala204= | |
| ENST00000648882.1:c.*438T>A | ENSP00000497603.1:n.*438T>A | |
| ENST00000648890.1:c.612T>A | ENSP00000497503.1:p.Ala204= | |
| ENST00000648915.2:c.612T>A MANE Select | ENSP00000497160.1:p.Ala204= | |
| ENST00000649545.1:c.346T>A | ||
| ENST00000649688.1:c.612T>A | ENSP00000497097.1:p.Ala204= | |
| ENST00000649814.1:n.661T>A | ||
| ENST00000650270.1:c.479T>A | ||
| ENST00000273783.7:c.612T>A | ENSP00000273783.3:p.Ala204= | |
| ENST00000432982.5:c.245+1328T>A | ||
| ENST00000444495.1:c.612T>A | ENSP00000409142.1:p.Ala204= | |
| ENST00000468748.5:n.65T>A | ||
| ENST00000481054.5:n.613T>A | ||
| ENST00000491008.5:n.576T>A | ||
| ENST00000491144.5:n.1052T>A | ||
| ENST00000498831.1:n.567T>A | ||
| NM_003907.2:c.612T>A | NP_003898.2:p.Ala204= | |
| XR_924208.1:n.1563T>A | ||
| NM_003907.3:c.612T>A MANE Select | NP_003898.2:p.Ala204= | |
| XM_011513266.3:c.-290T>A | XP_011511568.1:n.-290T>A | |
| XR_001740352.2:n.975T>A | ||
| XR_001740353.2:n.975T>A | ||
| XR_924208.2:n.975T>A |