Linked Data
ClinVar Variation Id:
38888
dbSNP Id:
rs3087425
ExAC:
8:30977810 C / T
gnomAD v2:
8-30977810-C-T
gnomAD v3:
8-31120294-C-T
gnomAD v4:
8-31120294-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31120294C>T , CM000670.2:g.31120294C>T | GRCh38 |
| NC_000008.10:g.30977810C>T , CM000670.1:g.30977810C>T | GRCh37 |
| NC_000008.9:g.31097352C>T | NCBI36 |
| NG_008870.1:g.92033C>T , LRG_524:g.92033C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298139.7:c.2500C>T MANE Select | ENSP00000298139.5:p.Arg834Cys | |
| ENST00000650667.1:c.*2114C>T | ENSP00000498593.1:n.*2114C>T | |
| ENST00000298139.5:c.2500C>T | ENSP00000298139.5:p.Arg834Cys | |
| ENST00000520169.1:n.339C>T | ||
| ENST00000521620.5:n.1133C>T | ||
| NM_000553.4:c.2500C>T , LRG_524t1:c.2500C>T | NP_000544.2:p.Arg834Cys | |
| XM_011544639.1:c.2419C>T | XP_011542941.1:p.Arg807Cys | |
| XM_011544640.1:c.901C>T | XP_011542942.1:p.Arg301Cys | |
| XR_949470.1:n.2773C>T | ||
| XR_949471.1:n.2773C>T | ||
| XR_949472.1:n.2773C>T | ||
| NM_000553.5:c.2500C>T | NP_000544.2:p.Arg834Cys | |
| XM_011544639.3:c.2419C>T | XP_011542941.1:p.Arg807Cys | |
| XM_024447265.1:c.2290C>T | XP_024303033.1:p.Arg764Cys | |
| XR_949470.3:n.2801C>T | ||
| XR_949471.3:n.2801C>T | ||
| XR_949472.3:n.2801C>T | ||
| NM_000553.6:c.2500C>T MANE Select | NP_000544.2:p.Arg834Cys |