Linked Data
ClinVar Variation Id:
2848220
ClinVar RCV Id:
RCV003604861
dbSNP Id:
rs1000640190
gnomAD v2:
11-44129758-C-T
gnomAD v3:
11-44108208-C-T
gnomAD v4:
11-44108208-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44108208C>T , CM000673.2:g.44108208C>T | GRCh38 |
| NC_000011.9:g.44129758C>T , CM000673.1:g.44129758C>T | GRCh37 |
| NC_000011.8:g.44086334C>T | NCBI36 |
| NG_007560.1:g.17660C>T , LRG_494:g.17660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.496C>T | ENSP00000342656.3:p.Arg166Cys | |
| ENST00000395673.8:c.496C>T | ENSP00000379032.4:p.Arg166Cys | |
| ENST00000531161.6:n.655C>T | ||
| ENST00000682359.1:c.496C>T | ENSP00000508226.1:p.Arg166Cys | |
| ENST00000682711.1:c.-544+12356C>T | ENSP00000506803.1:n.-544+12356C>T | |
| ENST00000682815.1:c.496C>T | ENSP00000507234.1:p.Arg166Cys | |
| ENST00000682947.1:n.670C>T | ||
| ENST00000682993.1:c.496C>T | ENSP00000507580.1:p.Arg166Cys | |
| ENST00000683000.1:c.496C>T | ENSP00000508361.1:p.Arg166Cys | |
| ENST00000683299.1:n.913C>T | ||
| ENST00000683870.1:c.496C>T | ENSP00000507922.1:p.Arg166Cys | |
| ENST00000683881.1:n.3057C>T | ||
| ENST00000684039.1:c.496C>T | ENSP00000507677.1:p.Arg166Cys | |
| ENST00000684124.1:c.496C>T | ENSP00000508332.1:p.Arg166Cys | |
| ENST00000684533.1:c.496C>T | ENSP00000507915.1:p.Arg166Cys | |
| ENST00000533608.7:c.496C>T MANE Select | ENSP00000431173.2:p.Arg166Cys | |
| ENST00000343631.3:c.496C>T | ENSP00000342656.3:p.Arg166Cys | |
| ENST00000358681.8:c.496C>T | ENSP00000351509.4:p.Arg166Cys | |
| ENST00000395673.7:c.595C>T | ENSP00000379032.3:p.Arg199Cys | |
| ENST00000529186.1:n.194C>T | ||
| ENST00000533608.5:c.496C>T | ENSP00000431173.1:p.Arg166Cys | |
| NM_000401.3:c.595C>T , LRG_494t1:c.595C>T | NP_000392.3:p.Arg199Cys | |
| NM_001178083.1:c.496C>T | NP_001171554.1:p.Arg166Cys | |
| NM_207122.1:c.496C>T , LRG_494t2:c.496C>T | NP_997005.1:p.Arg166Cys | |
| XM_011519950.1:c.634C>T | XP_011518252.1:p.Arg212Cys | |
| XM_011519951.1:c.535C>T | XP_011518253.1:p.Arg179Cys | |
| XM_024448383.1:c.634C>T | XP_024304151.1:p.Arg212Cys | |
| NM_001178083.2:c.496C>T | NP_001171554.1:p.Arg166Cys | |
| NM_207122.2:c.496C>T MANE Select | NP_997005.1:p.Arg166Cys | |
| NM_001178083.3:c.496C>T | NP_001171554.1:p.Arg166Cys | |
| NM_001389628.1:c.496C>T | NP_001376557.1:p.Arg166Cys | |
| NM_001389630.1:c.496C>T | NP_001376559.1:p.Arg166Cys |