Linked Data
ClinVar Variation Id:
526685
ClinVar RCV Id:
RCV000631284
dbSNP Id:
rs5030821
COSMIC:
COSM4189068
CIViC:
CA351756178
PCER:
P-CER:CA351756178/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149823G>T , CM000665.2:g.10149823G>T | GRCh38 |
| NC_000003.11:g.10191507G>T , CM000665.1:g.10191507G>T | GRCh37 |
| NC_000003.10:g.10166507G>T | NCBI36 |
| NG_008212.3:g.13189G>T , LRG_322:g.13189G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*177G>T | ENSP00000512434.1:n.*177G>T | |
| ENST00000696143.1:c.636G>T | ENSP00000512435.1:n.636G>T | |
| ENST00000696153.1:c.611G>T | ENSP00000512444.1:p.Arg204Leu | |
| ENST00000256474.3:c.500G>T MANE Select | ENSP00000256474.3:p.Arg167Leu | |
| ENST00000256474.2:c.500G>T | ENSP00000256474.2:p.Arg167Leu | |
| ENST00000345392.2:c.377G>T | ENSP00000344757.2:p.Arg126Leu | |
| ENST00000477538.1:n.636G>T | ||
| NM_000551.3:c.500G>T , LRG_322t1:c.500G>T | NP_000542.1:p.Arg167Leu | |
| NM_198156.2:c.377G>T | NP_937799.1:p.Arg126Leu | |
| NM_001354723.1:c.*54G>T | NP_001341652.1:n.*54G>T | |
| NM_000551.4:c.500G>T MANE Select | NP_000542.1:p.Arg167Leu | |
| NM_001354723.2:c.*54G>T | NP_001341652.1:n.*54G>T | |
| NM_198156.3:c.377G>T | NP_937799.1:p.Arg126Leu |