Linked Data
ClinVar Variation Id:
2184975
ClinVar RCV Id:
RCV002603585
dbSNP Id:
rs1318330741
gnomAD v2:
3-183855809-C-T
gnomAD v3:
3-184138021-C-T
gnomAD v4:
3-184138021-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138021C>T , CM000665.2:g.184138021C>T | GRCh38 |
| NC_000003.11:g.183855809C>T , CM000665.1:g.183855809C>T | GRCh37 |
| NC_000003.10:g.185338503C>T | NCBI36 |
| NG_015826.1:g.8000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.653C>T | ||
| ENST00000468748.7:n.613C>T | ||
| ENST00000484154.2:n.1251C>T | ||
| ENST00000491008.6:n.1378C>T | ||
| ENST00000492226.2:n.627C>T | ||
| ENST00000492773.6:c.362C>T | ||
| ENST00000647636.1:c.630C>T | ENSP00000497505.1:p.Asn210= | |
| ENST00000647909.1:c.654C>T | ENSP00000498164.1:p.Asn218= | |
| ENST00000648145.1:c.398C>T | ||
| ENST00000648189.1:c.380C>T | ||
| ENST00000648256.1:c.579C>T | ENSP00000497356.1:p.Asn193= | |
| ENST00000648314.1:c.630C>T | ENSP00000496920.1:p.Asn210= | |
| ENST00000648599.1:c.630C>T | ENSP00000497159.1:p.Asn210= | |
| ENST00000648630.1:c.624C>T | ENSP00000497887.1:p.Asn208= | |
| ENST00000648682.1:c.630C>T | ENSP00000498185.1:p.Asn210= | |
| ENST00000648882.1:c.*456C>T | ENSP00000497603.1:n.*456C>T | |
| ENST00000648890.1:c.630C>T | ENSP00000497503.1:p.Asn210= | |
| ENST00000648915.2:c.630C>T MANE Select | ENSP00000497160.1:p.Asn210= | |
| ENST00000649545.1:c.364C>T | ||
| ENST00000649688.1:c.630C>T | ENSP00000497097.1:p.Asn210= | |
| ENST00000649814.1:n.679C>T | ||
| ENST00000650270.1:c.497C>T | ||
| ENST00000273783.7:c.630C>T | ENSP00000273783.3:p.Asn210= | |
| ENST00000432982.5:c.245+1346C>T | ||
| ENST00000444495.1:c.630C>T | ENSP00000409142.1:p.Asn210= | |
| ENST00000468748.5:n.83C>T | ||
| ENST00000481054.5:n.631C>T | ||
| ENST00000491008.5:n.594C>T | ||
| ENST00000491144.5:n.1070C>T | ||
| ENST00000498831.1:n.585C>T | ||
| NM_003907.2:c.630C>T | NP_003898.2:p.Asn210= | |
| XR_924208.1:n.1581C>T | ||
| NM_003907.3:c.630C>T MANE Select | NP_003898.2:p.Asn210= | |
| XM_011513266.3:c.-272C>T | XP_011511568.1:n.-272C>T | |
| XR_001740352.2:n.993C>T | ||
| XR_001740353.2:n.993C>T | ||
| XR_924208.2:n.993C>T |