Linked Data
ClinVar Variation Id:
434343
ClinVar RCV Id:
RCV000503077
dbSNP Id:
rs1485978447
gnomAD v4:
1-26779062-C-T
COSMIC:
COSM51418
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26779062C>T , CM000663.2:g.26779062C>T | GRCh38 |
| NC_000001.10:g.27105553C>T , CM000663.1:g.27105553C>T | GRCh37 |
| NC_000001.9:g.26978140C>T | NCBI36 |
| NG_029965.1:g.88032C>T , LRG_875:g.88032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.5164C>T MANE Select | ENSP00000320485.7:p.Arg1722Ter | |
| ENST00000374152.7:c.4015C>T | ENSP00000363267.2:p.Arg1339Ter | |
| ENST00000430799.7:c.4012C>T | ENSP00000390317.3:p.Arg1338Ter | |
| ENST00000466382.2:c.581C>T | ||
| ENST00000636219.1:c.4018C>T | ENSP00000489842.1:p.Arg1340Ter | |
| ENST00000637788.1:n.964C>T | ||
| ENST00000324856.11:c.5164C>T | ENSP00000320485.7:p.Arg1722Ter | |
| ENST00000374152.6:c.4015C>T | ENSP00000363267.2:p.Arg1339Ter | |
| ENST00000430799.6:c.1853C>T | ||
| ENST00000457599.6:c.4513C>T | ENSP00000387636.2:p.Arg1505Ter | |
| ENST00000466382.1:c.581C>T | ||
| ENST00000532781.1:c.662C>T | ||
| NM_006015.4:c.5164C>T , LRG_875t1:c.5164C>T | NP_006006.3:p.Arg1722Ter | |
| NM_139135.2:c.4513C>T | NP_624361.1:p.Arg1505Ter | |
| NM_006015.5:c.5164C>T | NP_006006.3:p.Arg1722Ter | |
| NM_139135.3:c.4513C>T | NP_624361.1:p.Arg1505Ter | |
| NM_006015.6:c.5164C>T MANE Select | NP_006006.3:p.Arg1722Ter | |
| NM_139135.4:c.4513C>T | NP_624361.1:p.Arg1505Ter |