Linked Data
ClinVar Variation Id:
692118
dbSNP Id:
rs113994050
ExAC:
3:183855424 C / T
gnomAD v2:
3-183855424-C-T
gnomAD v4:
3-184137636-C-T
COSMIC:
COSM4680551
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137636C>T , CM000665.2:g.184137636C>T | GRCh38 |
| NC_000003.11:g.183855424C>T , CM000665.1:g.183855424C>T | GRCh37 |
| NC_000003.10:g.185338118C>T | NCBI36 |
| NG_015826.1:g.7615C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.360C>T | ||
| ENST00000468748.7:n.320C>T | ||
| ENST00000484154.2:n.958C>T | ||
| ENST00000491008.6:n.1085C>T | ||
| ENST00000492226.2:n.334C>T | ||
| ENST00000492773.6:c.69C>T | ||
| ENST00000647636.1:c.337C>T | ENSP00000497505.1:p.Arg113Cys | |
| ENST00000647909.1:c.337C>T | ENSP00000498164.1:p.Arg113Cys | |
| ENST00000648145.1:c.105C>T | ||
| ENST00000648189.1:c.87C>T | ||
| ENST00000648256.1:c.286C>T | ENSP00000497356.1:p.Arg96Cys | |
| ENST00000648314.1:c.337C>T | ENSP00000496920.1:p.Arg113Cys | |
| ENST00000648599.1:c.337C>T | ENSP00000497159.1:p.Arg113Cys | |
| ENST00000648630.1:c.331C>T | ENSP00000497887.1:p.Arg111Cys | |
| ENST00000648682.1:c.337C>T | ENSP00000498185.1:p.Arg113Cys | |
| ENST00000648882.1:c.*163C>T | ENSP00000497603.1:n.*163C>T | |
| ENST00000648890.1:c.337C>T | ENSP00000497503.1:p.Arg113Cys | |
| ENST00000648915.2:c.337C>T MANE Select | ENSP00000497160.1:p.Arg113Cys | |
| ENST00000649545.1:c.71C>T | ||
| ENST00000649688.1:c.337C>T | ENSP00000497097.1:p.Arg113Cys | |
| ENST00000649814.1:n.386C>T | ||
| ENST00000650244.1:c.482C>T | ENSP00000497227.1:n.482C>T | |
| ENST00000650270.1:c.204C>T | ||
| ENST00000273783.7:c.337C>T | ENSP00000273783.3:p.Arg113Cys | |
| ENST00000432982.5:c.245+961C>T | ||
| ENST00000444495.1:c.337C>T | ENSP00000409142.1:p.Arg113Cys | |
| ENST00000481054.5:n.338C>T | ||
| ENST00000491008.5:n.301C>T | ||
| ENST00000491144.5:n.685C>T | ||
| ENST00000498831.1:n.292C>T | ||
| NM_003907.2:c.337C>T | NP_003898.2:p.Arg113Cys | |
| XR_924208.1:n.1288C>T | ||
| NM_003907.3:c.337C>T MANE Select | NP_003898.2:p.Arg113Cys | |
| XM_011513266.3:c.-565C>T | XP_011511568.1:n.-565C>T | |
| XR_001740352.2:n.700C>T | ||
| XR_001740353.2:n.700C>T | ||
| XR_924208.2:n.700C>T |