Linked Data
ClinVar Variation Id:
40130
ClinVar RCV Id:
RCV000033175
dbSNP Id:
rs397514643
COSMIC:
COSM5007520
PubMed:
PMID:20949531
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13819330G>A , CM000665.2:g.13819330G>A | GRCh38 |
| NC_000003.11:g.13860827G>A , CM000665.1:g.13860827G>A | GRCh37 |
| NC_000003.10:g.13835828G>A | NCBI36 |
| NG_008088.1:g.65792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.664C>T MANE Select | ENSP00000285018.4:p.Arg222Trp | |
| ENST00000285018.4:c.664C>T | ENSP00000285018.4:p.Arg222Trp | |
| NM_004625.3:c.664C>T | NP_004616.2:p.Arg222Trp | |
| XM_011534090.1:c.463C>T | XP_011532392.1:p.Arg155Trp | |
| XM_011534091.1:c.463C>T | XP_011532393.1:p.Arg155Trp | |
| XM_011534091.2:c.463C>T | XP_011532393.1:p.Arg155Trp | |
| NM_004625.4:c.664C>T MANE Select | NP_004616.2:p.Arg222Trp |