Linked Data
ClinVar Variation Id:
6129
dbSNP Id:
rs121908602
gnomAD v3:
8-105561395-C-T
gnomAD v4:
8-105561395-C-T
COSMIC:
COSM3395048
PubMed:
PMID:16103912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105561395C>T , CM000670.2:g.105561395C>T | GRCh38 |
| NC_000008.10:g.106573623C>T , CM000670.1:g.106573623C>T | GRCh37 |
| NC_000008.9:g.106642799C>T | NCBI36 |
| NG_011723.1:g.247477C>T | |
| NG_011723.2:g.247477C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407775.7:c.334C>T MANE Select | ENSP00000384179.2:p.Arg112Ter | |
| ENST00000407775.6:c.334C>T | ENSP00000384179.2:p.Arg112Ter | |
| ENST00000511341.6:n.1074C>T | ||
| ENST00000517361.1:c.-63C>T | ENSP00000428720.1:n.-63C>T | |
| ENST00000520027.5:c.-63C>T | ENSP00000428149.1:n.-63C>T | |
| ENST00000520492.5:c.-63C>T | ENSP00000430757.1:n.-63C>T | |
| ENST00000524235.5:n.547C>T | ||
| NM_012082.3:c.334C>T | NP_036214.2:p.Arg112Ter | |
| XM_011516946.1:c.373C>T | XP_011515248.1:p.Arg125Ter | |
| XM_011516947.1:c.304C>T | XP_011515249.1:p.Arg102Ter | |
| XM_011516948.1:c.175C>T | XP_011515250.1:p.Arg59Ter | |
| XM_011516949.1:c.373C>T | XP_011515251.1:p.Arg125Ter | |
| NM_001362836.1:c.175C>T | NP_001349765.1:p.Arg59Ter | |
| NM_001362837.1:c.-63C>T | NP_001349766.1:n.-63C>T | |
| XM_011516947.3:c.304C>T | XP_011515249.1:p.Arg102Ter | |
| NM_012082.4:c.334C>T MANE Select | NP_036214.2:p.Arg112Ter | |
| NM_001362836.2:c.175C>T | NP_001349765.1:p.Arg59Ter | |
| NM_001362837.2:c.-63C>T | NP_001349766.1:n.-63C>T |