Linked Data
ClinVar Variation Id:
1451172
ClinVar RCV Id:
RCV002007148
dbSNP Id:
rs113994051
ExAC:
3:183855493 C / T
gnomAD v2:
3-183855493-C-T
gnomAD v4:
3-184137705-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137705C>T , CM000665.2:g.184137705C>T | GRCh38 |
| NC_000003.11:g.183855493C>T , CM000665.1:g.183855493C>T | GRCh37 |
| NC_000003.10:g.185338187C>T | NCBI36 |
| NG_015826.1:g.7684C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.429C>T | ||
| ENST00000468748.7:n.389C>T | ||
| ENST00000484154.2:n.1027C>T | ||
| ENST00000491008.6:n.1154C>T | ||
| ENST00000492226.2:n.403C>T | ||
| ENST00000492773.6:c.138C>T | ||
| ENST00000647636.1:c.406C>T | ENSP00000497505.1:p.Arg136Cys | |
| ENST00000647909.1:c.406C>T | ENSP00000498164.1:p.Arg136Cys | |
| ENST00000648145.1:c.174C>T | ||
| ENST00000648189.1:c.156C>T | ||
| ENST00000648256.1:c.355C>T | ENSP00000497356.1:p.Arg119Cys | |
| ENST00000648314.1:c.406C>T | ENSP00000496920.1:p.Arg136Cys | |
| ENST00000648599.1:c.406C>T | ENSP00000497159.1:p.Arg136Cys | |
| ENST00000648630.1:c.400C>T | ENSP00000497887.1:p.Arg134Cys | |
| ENST00000648682.1:c.406C>T | ENSP00000498185.1:p.Arg136Cys | |
| ENST00000648882.1:c.*232C>T | ENSP00000497603.1:n.*232C>T | |
| ENST00000648890.1:c.406C>T | ENSP00000497503.1:p.Arg136Cys | |
| ENST00000648915.2:c.406C>T MANE Select | ENSP00000497160.1:p.Arg136Cys | |
| ENST00000649545.1:c.140C>T | ||
| ENST00000649688.1:c.406C>T | ENSP00000497097.1:p.Arg136Cys | |
| ENST00000649814.1:n.455C>T | ||
| ENST00000650244.1:c.551C>T | ENSP00000497227.1:n.551C>T | |
| ENST00000650270.1:c.273C>T | ||
| ENST00000273783.7:c.406C>T | ENSP00000273783.3:p.Arg136Cys | |
| ENST00000432982.5:c.245+1030C>T | ||
| ENST00000444495.1:c.406C>T | ENSP00000409142.1:p.Arg136Cys | |
| ENST00000481054.5:n.407C>T | ||
| ENST00000491008.5:n.370C>T | ||
| ENST00000491144.5:n.754C>T | ||
| ENST00000498831.1:n.361C>T | ||
| NM_003907.2:c.406C>T | NP_003898.2:p.Arg136Cys | |
| XR_924208.1:n.1357C>T | ||
| NM_003907.3:c.406C>T MANE Select | NP_003898.2:p.Arg136Cys | |
| XM_011513266.3:c.-496C>T | XP_011511568.1:n.-496C>T | |
| XR_001740352.2:n.769C>T | ||
| XR_001740353.2:n.769C>T | ||
| XR_924208.2:n.769C>T |