Linked Data
ClinVar Variation Id:
463830
dbSNP Id:
rs968303021
gnomAD v2:
11-61213538-C-T
gnomAD v3:
11-61446066-C-T
gnomAD v4:
11-61446066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446066C>T , CM000673.2:g.61446066C>T | GRCh38 |
| NC_000011.9:g.61213538C>T , CM000673.1:g.61213538C>T | GRCh37 |
| NC_000011.8:g.60970114C>T | NCBI36 |
| NG_023393.1:g.20942C>T , LRG_519:g.20942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.496C>T MANE Select | ENSP00000301761.3:p.Arg166Cys | |
| ENST00000301761.6:c.496C>T | ENSP00000301761.2:p.Arg166Cys | |
| ENST00000536670.5:n.396+7953C>T | ||
| ENST00000538594.5:c.370+7953C>T | ENSP00000440939.1:n.370+7953C>T | |
| ENST00000541135.5:c.377+7946C>T | ENSP00000443130.1:n.377+7946C>T | |
| ENST00000542074.1:c.*75C>T | ENSP00000469670.1:n.*75C>T | |
| ENST00000542794.5:c.*498C>T | ENSP00000439983.1:n.*498C>T | |
| ENST00000543044.2:c.460C>T | ENSP00000440219.1:p.Arg154Cys | |
| ENST00000543265.1:c.*119C>T | ENSP00000443660.1:n.*119C>T | |
| ENST00000544025.5:n.465+7953C>T | ||
| ENST00000544801.5:c.370+7953C>T | ENSP00000442581.1:n.370+7953C>T | |
| ENST00000544880.1:n.374+7953C>T | ||
| NM_017841.2:c.496C>T , LRG_519t1:c.496C>T | NP_060311.1:p.Arg166Cys | |
| NM_017841.4:c.496C>T MANE Select | NP_060311.1:p.Arg166Cys |