Linked Data
ClinVar Variation Id:
381602
ClinVar RCV Id:
RCV000432980
dbSNP Id:
rs367545984
COSMIC:
COSM25670
PCER:
P-CER:CA16604432/193300
CIViC:
CA16604432
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149879G>T , CM000665.2:g.10149879G>T | GRCh38 |
| NC_000003.11:g.10191563G>T , CM000665.1:g.10191563G>T | GRCh37 |
| NC_000003.10:g.10166563G>T | NCBI36 |
| NG_008212.3:g.13245G>T , LRG_322:g.13245G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*233G>T | ENSP00000512434.1:n.*233G>T | |
| ENST00000696143.1:c.692G>T | ENSP00000512435.1:n.692G>T | |
| ENST00000696153.1:c.667G>T | ENSP00000512444.1:p.Glu223Ter | |
| ENST00000256474.3:c.556G>T MANE Select | ENSP00000256474.3:p.Glu186Ter | |
| ENST00000256474.2:c.556G>T | ENSP00000256474.2:p.Glu186Ter | |
| ENST00000345392.2:c.433G>T | ENSP00000344757.2:p.Glu145Ter | |
| ENST00000477538.1:n.692G>T | ||
| NM_000551.3:c.556G>T , LRG_322t1:c.556G>T | NP_000542.1:p.Glu186Ter | |
| NM_198156.2:c.433G>T | NP_937799.1:p.Glu145Ter | |
| NM_001354723.1:c.*110G>T | NP_001341652.1:n.*110G>T | |
| NM_000551.4:c.556G>T MANE Select | NP_000542.1:p.Glu186Ter | |
| NM_001354723.2:c.*110G>T | NP_001341652.1:n.*110G>T | |
| NM_198156.3:c.433G>T | NP_937799.1:p.Glu145Ter |