Linked Data
ClinVar Variation Id:
1096077
ClinVar RCV Id:
RCV001417209
dbSNP Id:
rs1713441656
gnomAD v3:
3-184138000-G-T
gnomAD v4:
3-184138000-G-T
MyVariant Identifiers:
chr3:g.183855788G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138000G>T , CM000665.2:g.184138000G>T | GRCh38 |
| NC_000003.11:g.183855788G>T , CM000665.1:g.183855788G>T | GRCh37 |
| NC_000003.10:g.185338482G>T | NCBI36 |
| NG_015826.1:g.7979G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.632G>T | ||
| ENST00000468748.7:n.592G>T | ||
| ENST00000484154.2:n.1230G>T | ||
| ENST00000491008.6:n.1357G>T | ||
| ENST00000492226.2:n.606G>T | ||
| ENST00000492773.6:c.341G>T | ||
| ENST00000647636.1:c.609G>T | ENSP00000497505.1:p.Val203= | |
| ENST00000647909.1:c.633G>T | ENSP00000498164.1:p.Val211= | |
| ENST00000648145.1:c.377G>T | ||
| ENST00000648189.1:c.359G>T | ||
| ENST00000648256.1:c.558G>T | ENSP00000497356.1:p.Val186= | |
| ENST00000648314.1:c.609G>T | ENSP00000496920.1:p.Val203= | |
| ENST00000648599.1:c.609G>T | ENSP00000497159.1:p.Val203= | |
| ENST00000648630.1:c.603G>T | ENSP00000497887.1:p.Val201= | |
| ENST00000648682.1:c.609G>T | ENSP00000498185.1:p.Val203= | |
| ENST00000648882.1:c.*435G>T | ENSP00000497603.1:n.*435G>T | |
| ENST00000648890.1:c.609G>T | ENSP00000497503.1:p.Val203= | |
| ENST00000648915.2:c.609G>T MANE Select | ENSP00000497160.1:p.Val203= | |
| ENST00000649545.1:c.343G>T | ||
| ENST00000649688.1:c.609G>T | ENSP00000497097.1:p.Val203= | |
| ENST00000649814.1:n.658G>T | ||
| ENST00000650270.1:c.476G>T | ||
| ENST00000273783.7:c.609G>T | ENSP00000273783.3:p.Val203= | |
| ENST00000432982.5:c.245+1325G>T | ||
| ENST00000444495.1:c.609G>T | ENSP00000409142.1:p.Val203= | |
| ENST00000468748.5:n.62G>T | ||
| ENST00000481054.5:n.610G>T | ||
| ENST00000491008.5:n.573G>T | ||
| ENST00000491144.5:n.1049G>T | ||
| ENST00000498831.1:n.564G>T | ||
| NM_003907.2:c.609G>T | NP_003898.2:p.Val203= | |
| XR_924208.1:n.1560G>T | ||
| NM_003907.3:c.609G>T MANE Select | NP_003898.2:p.Val203= | |
| XM_011513266.3:c.-293G>T | XP_011511568.1:n.-293G>T | |
| XR_001740352.2:n.972G>T | ||
| XR_001740353.2:n.972G>T | ||
| XR_924208.2:n.972G>T |