Linked Data
ClinVar Variation Id:
223236
dbSNP Id:
rs869025668
COSMIC:
COSM479181
CIViC:
CA357103
PCER:
P-CER:CA357103/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149964G>T , CM000665.2:g.10149964G>T | GRCh38 |
| NC_000003.11:g.10191648G>T , CM000665.1:g.10191648G>T | GRCh37 |
| NC_000003.10:g.10166648G>T | NCBI36 |
| NG_008212.3:g.13330G>T , LRG_322:g.13330G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*318G>T | ENSP00000512434.1:n.*318G>T | |
| ENST00000696143.1:c.777G>T | ENSP00000512435.1:n.777G>T | |
| ENST00000696153.1:c.752G>T | ENSP00000512444.1:p.Ter251Leu | |
| ENST00000256474.3:c.641G>T MANE Select | ENSP00000256474.3:p.Ter214Leu | |
| ENST00000256474.2:c.641G>T | ENSP00000256474.2:p.Ter214Leu | |
| ENST00000345392.2:c.518G>T | ENSP00000344757.2:p.Ter173Leu | |
| ENST00000477538.1:n.777G>T | ||
| NM_000551.3:c.641G>T , LRG_322t1:c.641G>T | NP_000542.1:p.Ter214Leu | |
| NM_198156.2:c.518G>T | NP_937799.1:p.Ter173Leu | |
| NM_001354723.1:c.*195G>T | NP_001341652.1:n.*195G>T | |
| NM_000551.4:c.641G>T MANE Select | NP_000542.1:p.Ter214Leu | |
| NM_001354723.2:c.*195G>T | NP_001341652.1:n.*195G>T | |
| NM_198156.3:c.518G>T | NP_937799.1:p.Ter173Leu |