Linked Data
ClinVar Variation Id:
1609178
ClinVar RCV Id:
RCV002150110
dbSNP Id:
rs1262621822
gnomAD v2:
3-183854531-C-A
gnomAD v4:
3-184136743-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184136743C>A , CM000665.2:g.184136743C>A | GRCh38 |
| NC_000003.11:g.183854531C>A , CM000665.1:g.183854531C>A | GRCh37 |
| NC_000003.10:g.185337225C>A | NCBI36 |
| NG_015826.1:g.6722C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432569.2:c.*3C>A | ENSP00000414775.1:n.*3C>A | |
| ENST00000465218.3:n.343+7C>A | ||
| ENST00000468748.7:n.303+7C>A | ||
| ENST00000471832.2:c.*321C>A | ENSP00000497786.1:n.*321C>A | |
| ENST00000484154.2:n.65C>A | ||
| ENST00000491008.6:n.192C>A | ||
| ENST00000492226.2:n.317+7C>A | ||
| ENST00000492773.6:c.52+7C>A | ||
| ENST00000647636.1:c.320+7C>A | ENSP00000497505.1:n.320+7C>A | |
| ENST00000647909.1:c.320+7C>A | ENSP00000498164.1:n.320+7C>A | |
| ENST00000648145.1:c.88+7C>A | ||
| ENST00000648189.1:c.70+7C>A | ||
| ENST00000648256.1:c.269+7C>A | ENSP00000497356.1:n.269+7C>A | |
| ENST00000648314.1:c.320+7C>A | ENSP00000496920.1:n.320+7C>A | |
| ENST00000648599.1:c.320+7C>A | ENSP00000497159.1:n.320+7C>A | |
| ENST00000648630.1:c.314+7C>A | ENSP00000497887.1:n.314+7C>A | |
| ENST00000648682.1:c.320+7C>A | ENSP00000498185.1:n.320+7C>A | |
| ENST00000648882.1:c.*146+7C>A | ENSP00000497603.1:n.*146+7C>A | |
| ENST00000648890.1:c.320+7C>A | ENSP00000497503.1:n.320+7C>A | |
| ENST00000648915.2:c.320+7C>A MANE Select | ENSP00000497160.1:n.320+7C>A | |
| ENST00000649545.1:c.54+7C>A | ||
| ENST00000649688.1:c.320+7C>A | ENSP00000497097.1:n.320+7C>A | |
| ENST00000649814.1:n.369+7C>A | ||
| ENST00000650244.1:c.465+7C>A | ENSP00000497227.1:n.465+7C>A | |
| ENST00000650270.1:c.187+7C>A | ||
| ENST00000273783.7:c.320+7C>A | ENSP00000273783.3:n.320+7C>A | |
| ENST00000432569.1:c.*3C>A | ENSP00000414775.1:n.*3C>A | |
| ENST00000432982.5:c.245+68C>A | ||
| ENST00000444495.1:c.320+7C>A | ENSP00000409142.1:n.320+7C>A | |
| ENST00000471832.1:n.258C>A | ||
| ENST00000481054.5:n.321+7C>A | ||
| ENST00000491144.5:n.668+7C>A | ||
| ENST00000498831.1:n.176+7C>A | ||
| NM_003907.2:c.320+7C>A | NP_003898.2:n.320+7C>A | |
| XR_924208.1:n.1271+7C>A | ||
| NM_003907.3:c.320+7C>A MANE Select | NP_003898.2:n.320+7C>A | |
| XM_011513266.3:c.-582+7C>A | XP_011511568.1:n.-582+7C>A | |
| XR_001740352.2:n.683+7C>A | ||
| XR_001740353.2:n.683+7C>A | ||
| XR_924208.2:n.683+7C>A |