Linked Data
ClinVar Variation Id:
428794
dbSNP Id:
rs5030825
COSMIC:
COSM14359
ERepo:
CA70052558/MONDO:0008667/078
PCER:
P-CER:CA70052558/193300
CIViC:
CA70052558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149906C>T , CM000665.2:g.10149906C>T | GRCh38 |
| NC_000003.11:g.10191590C>T , CM000665.1:g.10191590C>T | GRCh37 |
| NC_000003.10:g.10166590C>T | NCBI36 |
| NG_008212.3:g.13272C>T , LRG_322:g.13272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*260C>T | ENSP00000512434.1:n.*260C>T | |
| ENST00000696143.1:c.719C>T | ENSP00000512435.1:n.719C>T | |
| ENST00000696153.1:c.694C>T | ENSP00000512444.1:p.Gln232Ter | |
| ENST00000256474.3:c.583C>T MANE Select | ENSP00000256474.3:p.Gln195Ter | |
| ENST00000256474.2:c.583C>T | ENSP00000256474.2:p.Gln195Ter | |
| ENST00000345392.2:c.460C>T | ENSP00000344757.2:p.Gln154Ter | |
| ENST00000477538.1:n.719C>T | ||
| NM_000551.3:c.583C>T , LRG_322t1:c.583C>T | NP_000542.1:p.Gln195Ter | |
| NM_198156.2:c.460C>T | NP_937799.1:p.Gln154Ter | |
| NM_001354723.1:c.*137C>T | NP_001341652.1:n.*137C>T | |
| NM_000551.4:c.583C>T MANE Select | NP_000542.1:p.Gln195Ter | |
| NM_001354723.2:c.*137C>T | NP_001341652.1:n.*137C>T | |
| NM_198156.3:c.460C>T | NP_937799.1:p.Gln154Ter |