Linked Data
ClinVar Variation Id:
11324
ClinVar RCV Id:
RCV000012076
dbSNP Id:
rs1054894
COSMIC:
COSM5540385
PubMed:
PMID:11405816
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346555G>A , CM000685.2:g.101346555G>A | GRCh38 |
| NC_000023.10:g.100601543G>A , CM000685.1:g.100601543G>A | GRCh37 |
| NC_000023.9:g.100488199G>A | NCBI36 |
| NG_011734.1:g.7415C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372902.4:c.238C>T MANE Select | ENSP00000361993.3:p.Arg80Ter | |
| ENST00000644112.2:c.*1832C>T | ENSP00000494385.1:n.*1832C>T | |
| ENST00000645279.1:c.*432C>T | ENSP00000494239.1:n.*432C>T | |
| ENST00000647480.1:n.755C>T | ||
| ENST00000372902.3:c.238C>T | ENSP00000361993.3:p.Arg80Ter | |
| NM_004085.3:c.238C>T | NP_004076.1:p.Arg80Ter | |
| NM_004085.4:c.238C>T MANE Select | NP_004076.1:p.Arg80Ter | |
| NM_001145951.2:c.*1832C>T | NP_001139423.1:n.*1832C>T |