Linked Data
ClinVar Variation Id:
182980
dbSNP Id:
rs121913346
COSMIC:
COSM14387
PubMed:
PMID:7728151
PMID:7977367
PMID:8825919
PMID:9829912
PMID:10563480
PMID:15935760
PMID:19602254
CIViC:
CA020399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149796T>C , CM000665.2:g.10149796T>C | GRCh38 |
| NC_000003.11:g.10191480T>C , CM000665.1:g.10191480T>C | GRCh37 |
| NC_000003.10:g.10166480T>C | NCBI36 |
| NG_008212.3:g.13162T>C , LRG_322:g.13162T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*150T>C | ENSP00000512434.1:n.*150T>C | |
| ENST00000696143.1:c.609T>C | ENSP00000512435.1:n.609T>C | |
| ENST00000696153.1:c.584T>C | ENSP00000512444.1:p.Leu195Pro | |
| ENST00000256474.3:c.473T>C MANE Select | ENSP00000256474.3:p.Leu158Pro | |
| ENST00000256474.2:c.473T>C | ENSP00000256474.2:p.Leu158Pro | |
| ENST00000345392.2:c.350T>C | ENSP00000344757.2:p.Leu117Pro | |
| ENST00000477538.1:n.609T>C | ||
| NM_000551.3:c.473T>C , LRG_322t1:c.473T>C | NP_000542.1:p.Leu158Pro | |
| NM_198156.2:c.350T>C | NP_937799.1:p.Leu117Pro | |
| NM_001354723.1:c.*27T>C | NP_001341652.1:n.*27T>C | |
| NM_000551.4:c.473T>C MANE Select | NP_000542.1:p.Leu158Pro | |
| NM_001354723.2:c.*27T>C | NP_001341652.1:n.*27T>C | |
| NM_198156.3:c.350T>C | NP_937799.1:p.Leu117Pro |