Linked Data
ClinVar Variation Id:
625265
ClinVar RCV Id:
RCV000767293
dbSNP Id:
rs1559429824
COSMIC:
COSM17800
CIViC:
CA351756398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149886T>A , CM000665.2:g.10149886T>A | GRCh38 |
| NC_000003.11:g.10191570T>A , CM000665.1:g.10191570T>A | GRCh37 |
| NC_000003.10:g.10166570T>A | NCBI36 |
| NG_008212.3:g.13252T>A , LRG_322:g.13252T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*240T>A | ENSP00000512434.1:n.*240T>A | |
| ENST00000696143.1:c.699T>A | ENSP00000512435.1:n.699T>A | |
| ENST00000696153.1:c.674T>A | ENSP00000512444.1:p.Leu225Gln | |
| ENST00000256474.3:c.563T>A MANE Select | ENSP00000256474.3:p.Leu188Gln | |
| ENST00000256474.2:c.563T>A | ENSP00000256474.2:p.Leu188Gln | |
| ENST00000345392.2:c.440T>A | ENSP00000344757.2:p.Leu147Gln | |
| ENST00000477538.1:n.699T>A | ||
| NM_000551.3:c.563T>A , LRG_322t1:c.563T>A | NP_000542.1:p.Leu188Gln | |
| NM_198156.2:c.440T>A | NP_937799.1:p.Leu147Gln | |
| NM_001354723.1:c.*117T>A | NP_001341652.1:n.*117T>A | |
| NM_000551.4:c.563T>A MANE Select | NP_000542.1:p.Leu188Gln | |
| NM_001354723.2:c.*117T>A | NP_001341652.1:n.*117T>A | |
| NM_198156.3:c.440T>A | NP_937799.1:p.Leu147Gln |