Linked Data
ClinVar Variation Id:
417772
dbSNP Id:
rs1060505036
gnomAD v2:
3-113513742-C-T
gnomAD v4:
3-113794895-C-T
COSMIC:
COSM1417897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.113794895C>T , CM000665.2:g.113794895C>T | GRCh38 |
| NC_000003.11:g.113513742C>T , CM000665.1:g.113513742C>T | GRCh37 |
| NC_000003.10:g.114996432C>T | NCBI36 |
| NG_047012.1:g.52877C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496747.6:c.913C>T | ENSP00000417545.2:p.Arg305Cys | |
| ENST00000703904.2:c.1012C>T | ENSP00000515542.1:p.Arg338Cys | |
| ENST00000703908.1:c.565-8688C>T | ENSP00000515545.1:n.565-8688C>T | |
| ENST00000703909.1:c.1012C>T | ENSP00000515546.1:p.Arg338Cys | |
| ENST00000703910.1:c.1012C>T | ENSP00000515547.1:p.Arg338Cys | |
| ENST00000703911.1:c.1012C>T | ENSP00000515548.1:p.Arg338Cys | |
| ENST00000273398.8:c.1012C>T MANE Select | ENSP00000273398.3:p.Arg338Cys | |
| ENST00000273398.7:c.1012C>T | ENSP00000273398.3:p.Arg338Cys | |
| ENST00000470455.5:c.*914C>T | ENSP00000420146.1:n.*914C>T | |
| NM_001690.3:c.1012C>T | NP_001681.2:p.Arg338Cys | |
| NM_001690.4:c.1012C>T MANE Select | NP_001681.2:p.Arg338Cys |