Linked Data
ClinVar Variation Id:
1968824
ClinVar RCV Id:
RCV002712084
MyVariant Identifiers:
chr3:g.183858307C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184140519C>A , CM000665.2:g.184140519C>A | GRCh38 |
| NC_000003.11:g.183858307C>A , CM000665.1:g.183858307C>A | GRCh37 |
| NC_000003.10:g.185341001C>A | NCBI36 |
| NG_015826.1:g.10498C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.968C>A | ||
| ENST00000468748.7:n.1188C>A | ||
| ENST00000484154.2:n.1387-1406C>A | ||
| ENST00000491008.6:n.1693C>A | ||
| ENST00000492226.2:n.1202C>A | ||
| ENST00000492773.6:c.699C>A | ||
| ENST00000647636.1:c.945C>A | ENSP00000497505.1:p.Arg315= | |
| ENST00000647909.1:c.969C>A | ENSP00000498164.1:p.Arg323= | |
| ENST00000648145.1:c.713C>A | ||
| ENST00000648189.1:c.759C>A | ||
| ENST00000648256.1:c.917C>A | ENSP00000497356.1:n.917C>A | |
| ENST00000648314.1:c.*64C>A | ENSP00000496920.1:n.*64C>A | |
| ENST00000648599.1:c.*228C>A | ENSP00000497159.1:n.*228C>A | |
| ENST00000648630.1:c.939C>A | ENSP00000497887.1:p.Arg313= | |
| ENST00000648682.1:c.945C>A | ENSP00000498185.1:p.Arg315= | |
| ENST00000648882.1:c.*771C>A | ENSP00000497603.1:n.*771C>A | |
| ENST00000648890.1:c.945C>A | ENSP00000497503.1:p.Arg315= | |
| ENST00000648915.2:c.945C>A MANE Select | ENSP00000497160.1:p.Arg315= | |
| ENST00000649545.1:c.577+362C>A | ||
| ENST00000649688.1:c.*228C>A | ENSP00000497097.1:n.*228C>A | |
| ENST00000649814.1:n.994C>A | ||
| ENST00000650270.1:c.812C>A | ||
| ENST00000273783.7:c.945C>A | ENSP00000273783.3:p.Arg315= | |
| ENST00000432982.5:c.246-1718C>A | ||
| ENST00000444495.1:c.945C>A | ENSP00000409142.1:p.Arg315= | |
| ENST00000468748.5:n.658C>A | ||
| ENST00000479833.1:n.261C>A | ||
| ENST00000481054.5:n.1039C>A | ||
| ENST00000491144.5:n.1449C>A | ||
| ENST00000493740.1:n.175C>A | ||
| NM_003907.2:c.945C>A | NP_003898.2:p.Arg315= | |
| XM_011513265.1:c.195C>A | XP_011511567.1:p.Arg65= | |
| XM_011513266.1:c.108C>A | XP_011511568.1:p.Arg36= | |
| XR_924208.1:n.1896C>A | ||
| NM_003907.3:c.945C>A MANE Select | NP_003898.2:p.Arg315= | |
| XM_011513266.3:c.108C>A | XP_011511568.1:p.Arg36= | |
| XR_001740352.2:n.1308C>A | ||
| XR_001740353.2:n.1308C>A | ||
| XR_924208.2:n.1308C>A |