Linked Data
ClinVar Variation Id:
16386
ClinVar RCV Id:
RCV000119098
dbSNP Id:
rs121909619
gnomAD v2:
4-155487065-C-T
gnomAD v3:
4-154565913-C-T
gnomAD v4:
4-154565913-C-T
PubMed:
PMID:1565641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154565913C>T , CM000666.2:g.154565913C>T | GRCh38 |
| NC_000004.11:g.155487065C>T , CM000666.1:g.155487065C>T | GRCh37 |
| NC_000004.10:g.155706515C>T | NCBI36 |
| NG_008833.1:g.7934C>T , LRG_558:g.7934C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302068.9:c.220C>T MANE Select | ENSP00000306099.4:p.Arg74Cys | |
| ENST00000302068.8:c.220C>T | ENSP00000306099.4:p.Arg74Cys | |
| ENST00000425838.5:c.*132C>T | ENSP00000398719.1:n.*132C>T | |
| ENST00000473984.1:n.133C>T | ||
| ENST00000497097.5:n.227C>T | ||
| ENST00000498375.2:n.850C>T | ||
| ENST00000502545.5:n.201C>T | ||
| ENST00000509493.1:c.-167-1680C>T | ENSP00000426757.1:n.-167-1680C>T | |
| NM_001184741.1:c.165+55C>T | NP_001171670.1:n.165+55C>T | |
| NM_005141.4:c.220C>T , LRG_558t1:c.220C>T | NP_005132.2:p.Arg74Cys | |
| NM_001382759.1:c.220C>T | NP_001369688.1:p.Arg74Cys | |
| NM_001382760.1:c.220C>T | NP_001369689.1:p.Arg74Cys | |
| NM_001382761.1:c.220C>T | NP_001369690.1:p.Arg74Cys | |
| NM_001382762.1:c.220C>T | NP_001369691.1:p.Arg74Cys | |
| NM_001382763.1:c.220C>T | NP_001369692.1:p.Arg74Cys | |
| NM_001382764.1:c.220C>T | NP_001369693.1:p.Arg74Cys | |
| NM_001382765.1:c.220C>T | NP_001369694.1:p.Arg74Cys | |
| NM_005141.5:c.220C>T MANE Select | NP_005132.2:p.Arg74Cys |