Linked Data
ClinVar Variation Id:
223228
dbSNP Id:
rs5030819
COSMIC:
COSM14397
CIViC:
CA357060
PCER:
P-CER:CA357060/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149813C>T , CM000665.2:g.10149813C>T | GRCh38 |
| NC_000003.11:g.10191497C>T , CM000665.1:g.10191497C>T | GRCh37 |
| NC_000003.10:g.10166497C>T | NCBI36 |
| NG_008212.3:g.13179C>T , LRG_322:g.13179C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*167C>T | ENSP00000512434.1:n.*167C>T | |
| ENST00000696143.1:c.626C>T | ENSP00000512435.1:n.626C>T | |
| ENST00000696153.1:c.601C>T | ENSP00000512444.1:p.Gln201Ter | |
| ENST00000256474.3:c.490C>T MANE Select | ENSP00000256474.3:p.Gln164Ter | |
| ENST00000256474.2:c.490C>T | ENSP00000256474.2:p.Gln164Ter | |
| ENST00000345392.2:c.367C>T | ENSP00000344757.2:p.Gln123Ter | |
| ENST00000477538.1:n.626C>T | ||
| NM_000551.3:c.490C>T , LRG_322t1:c.490C>T | NP_000542.1:p.Gln164Ter | |
| NM_198156.2:c.367C>T | NP_937799.1:p.Gln123Ter | |
| NM_001354723.1:c.*44C>T | NP_001341652.1:n.*44C>T | |
| NM_000551.4:c.490C>T MANE Select | NP_000542.1:p.Gln164Ter | |
| NM_001354723.2:c.*44C>T | NP_001341652.1:n.*44C>T | |
| NM_198156.3:c.367C>T | NP_937799.1:p.Gln123Ter |