Linked Data
ClinVar Variation Id:
88673
ClinVar RCV Id:
RCV000074360
RCV000160962
RCV000541839
RCV001261800
RCV002228175
RCV002311544
RCV002483120
RCV003398656
RCV003584539
dbSNP Id:
rs397518413
ExAC:
18:48604664 C / T
gnomAD v2:
18-48604664-C-T
gnomAD v4:
18-51078294-C-T
COSMIC:
COSM6476007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078294C>T , CM000680.2:g.51078294C>T | GRCh38 |
| NC_000018.9:g.48604664C>T , CM000680.1:g.48604664C>T | GRCh37 |
| NC_000018.8:g.46858662C>T | NCBI36 |
| NG_013013.2:g.115255C>T , LRG_318:g.115255C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1486C>T | ENSP00000465878.2:p.Arg496Cys | |
| ENST00000589076.6:c.1486C>T | ENSP00000466934.2:p.Arg496Cys | |
| ENST00000589941.2:c.1486C>T | ENSP00000465874.2:p.Arg496Cys | |
| ENST00000590061.2:c.1486C>T | ENSP00000464772.2:p.Arg496Cys | |
| ENST00000593223.2:c.*1483C>T | ENSP00000466118.2:n.*1483C>T | |
| ENST00000611848.2:c.*138C>T | ENSP00000478613.2:n.*138C>T | |
| ENST00000684953.1:n.3501C>T | ||
| ENST00000685090.1:n.3416C>T | ||
| ENST00000685232.1:n.1707C>T | ||
| ENST00000688574.1:n.1594C>T | ||
| ENST00000691124.1:n.4447C>T | ||
| ENST00000342988.8:c.1486C>T MANE Select | ENSP00000341551.3:p.Arg496Cys | |
| ENST00000342988.7:c.1486C>T | ENSP00000341551.3:p.Arg496Cys | |
| ENST00000398417.6:c.1486C>T | ENSP00000381452.1:p.Arg496Cys | |
| ENST00000586253.1:n.208C>T | ||
| ENST00000588745.5:c.1198C>T | ENSP00000464901.1:p.Arg400Cys | |
| ENST00000591126.5:n.3487C>T | ||
| ENST00000592186.5:c.1133C>T | ENSP00000468611.1:n.1133C>T | |
| ENST00000611848.1:c.799C>T | ||
| NM_005359.5:c.1486C>T , LRG_318t1:c.1486C>T | NP_005350.1:p.Arg496Cys | |
| NM_005359.6:c.1486C>T MANE Select | NP_005350.1:p.Arg496Cys |