Linked Data
ClinVar Variation Id:
1664150
ClinVar RCV Id:
RCV002190992
dbSNP Id:
rs2109006299
gnomAD v4:
3-184136614-C-T
MyVariant Identifiers:
chr3:g.183854402C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184136614C>T , CM000665.2:g.184136614C>T | GRCh38 |
| NC_000003.11:g.183854402C>T , CM000665.1:g.183854402C>T | GRCh37 |
| NC_000003.10:g.185337096C>T | NCBI36 |
| NG_015826.1:g.6593C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432569.2:c.198C>T | ENSP00000414775.1:p.Val66= | |
| ENST00000465218.3:n.221C>T | ||
| ENST00000468748.7:n.181C>T | ||
| ENST00000471832.2:c.*192C>T | ENSP00000497786.1:n.*192C>T | |
| ENST00000491008.6:n.63C>T | ||
| ENST00000492226.2:n.195C>T | ||
| ENST00000647636.1:c.198C>T | ENSP00000497505.1:p.Val66= | |
| ENST00000647909.1:c.198C>T | ENSP00000498164.1:p.Val66= | |
| ENST00000648256.1:c.147C>T | ENSP00000497356.1:p.Val49= | |
| ENST00000648314.1:c.198C>T | ENSP00000496920.1:p.Val66= | |
| ENST00000648599.1:c.198C>T | ENSP00000497159.1:p.Val66= | |
| ENST00000648630.1:c.192C>T | ENSP00000497887.1:p.Val64= | |
| ENST00000648682.1:c.198C>T | ENSP00000498185.1:p.Val66= | |
| ENST00000648882.1:c.*24C>T | ENSP00000497603.1:n.*24C>T | |
| ENST00000648890.1:c.198C>T | ENSP00000497503.1:p.Val66= | |
| ENST00000648915.2:c.198C>T MANE Select | ENSP00000497160.1:p.Val66= | |
| ENST00000649688.1:c.198C>T | ENSP00000497097.1:p.Val66= | |
| ENST00000649814.1:n.247C>T | ||
| ENST00000650244.1:c.343C>T | ENSP00000497227.1:n.343C>T | |
| ENST00000650270.1:c.65C>T | ||
| ENST00000273783.7:c.198C>T | ENSP00000273783.3:p.Val66= | |
| ENST00000432569.1:c.198C>T | ENSP00000414775.1:p.Val66= | |
| ENST00000432982.5:c.184C>T | ||
| ENST00000444495.1:c.198C>T | ENSP00000409142.1:p.Val66= | |
| ENST00000471832.1:n.129C>T | ||
| ENST00000481054.5:n.199C>T | ||
| ENST00000491144.5:n.546C>T | ||
| ENST00000498831.1:n.54C>T | ||
| NM_003907.2:c.198C>T | NP_003898.2:p.Val66= | |
| XR_924208.1:n.1149C>T | ||
| NM_003907.3:c.198C>T MANE Select | NP_003898.2:p.Val66= | |
| XM_011513266.3:c.-704C>T | XP_011511568.1:n.-704C>T | |
| XR_001740352.2:n.561C>T | ||
| XR_001740353.2:n.561C>T | ||
| XR_924208.2:n.561C>T |