Linked Data
ClinVar Variation Id:
209089
dbSNP Id:
rs797045165
gnomAD v2:
22-21345975-C-T
gnomAD v3:
22-20991686-C-T
gnomAD v4:
22-20991686-C-T
COSMIC:
COSM1032415
PubMed:
PMID:25795793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20991686C>T , CM000684.2:g.20991686C>T | GRCh38 |
| NC_000022.10:g.21345975C>T , CM000684.1:g.21345975C>T | GRCh37 |
| NC_000022.9:g.19675975C>T | NCBI36 |
| NG_034193.1:g.14418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.850C>T | ENSP00000515073.1:p.Arg284Cys | |
| ENST00000495142.6:n.195C>T | ||
| ENST00000642151.1:c.681C>T | ||
| ENST00000643578.1:n.872C>T | ||
| ENST00000646124.2:c.850C>T MANE Select | ENSP00000496779.1:p.Arg284Cys | |
| ENST00000646506.1:n.429C>T | ||
| ENST00000215739.12:c.850C>T | ENSP00000215739.8:p.Arg284Cys | |
| ENST00000479606.5:n.996C>T | ||
| ENST00000497716.5:n.677C>T | ||
| NM_006767.3:c.850C>T | NP_006758.2:p.Arg284Cys | |
| NM_006767.4:c.850C>T MANE Select | NP_006758.2:p.Arg284Cys |