Linked Data
ClinVar Variation Id:
2215
dbSNP Id:
rs5030823
COSMIC:
COSM14380
CIViC:
CA020473
PubMed:
PMID:7784063
PCER:
P-CER:CA020473/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149871C>A , CM000665.2:g.10149871C>A | GRCh38 |
| NC_000003.11:g.10191555C>A , CM000665.1:g.10191555C>A | GRCh37 |
| NC_000003.10:g.10166555C>A | NCBI36 |
| NG_008212.3:g.13237C>A , LRG_322:g.13237C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*225C>A | ENSP00000512434.1:n.*225C>A | |
| ENST00000696143.1:c.684C>A | ENSP00000512435.1:n.684C>A | |
| ENST00000696153.1:c.659C>A | ENSP00000512444.1:p.Ser220Ter | |
| ENST00000256474.3:c.548C>A MANE Select | ENSP00000256474.3:p.Ser183Ter | |
| ENST00000256474.2:c.548C>A | ENSP00000256474.2:p.Ser183Ter | |
| ENST00000345392.2:c.425C>A | ENSP00000344757.2:p.Ser142Ter | |
| ENST00000477538.1:n.684C>A | ||
| NM_000551.3:c.548C>A , LRG_322t1:c.548C>A | NP_000542.1:p.Ser183Ter | |
| NM_198156.2:c.425C>A | NP_937799.1:p.Ser142Ter | |
| NM_001354723.1:c.*102C>A | NP_001341652.1:n.*102C>A | |
| NM_000551.4:c.548C>A MANE Select | NP_000542.1:p.Ser183Ter | |
| NM_001354723.2:c.*102C>A | NP_001341652.1:n.*102C>A | |
| NM_198156.3:c.425C>A | NP_937799.1:p.Ser142Ter |