Linked Data
ClinVar Variation Id:
625260
ClinVar RCV Id:
RCV000767288
dbSNP Id:
rs5030822
CIViC:
CA70052370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149856T>A , CM000665.2:g.10149856T>A | GRCh38 |
| NC_000003.11:g.10191540T>A , CM000665.1:g.10191540T>A | GRCh37 |
| NC_000003.10:g.10166540T>A | NCBI36 |
| NG_008212.3:g.13222T>A , LRG_322:g.13222T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*210T>A | ENSP00000512434.1:n.*210T>A | |
| ENST00000696143.1:c.669T>A | ENSP00000512435.1:n.669T>A | |
| ENST00000696153.1:c.644T>A | ENSP00000512444.1:p.Leu215Gln | |
| ENST00000256474.3:c.533T>A MANE Select | ENSP00000256474.3:p.Leu178Gln | |
| ENST00000256474.2:c.533T>A | ENSP00000256474.2:p.Leu178Gln | |
| ENST00000345392.2:c.410T>A | ENSP00000344757.2:p.Leu137Gln | |
| ENST00000477538.1:n.669T>A | ||
| NM_000551.3:c.533T>A , LRG_322t1:c.533T>A | NP_000542.1:p.Leu178Gln | |
| NM_198156.2:c.410T>A | NP_937799.1:p.Leu137Gln | |
| NM_001354723.1:c.*87T>A | NP_001341652.1:n.*87T>A | |
| NM_000551.4:c.533T>A MANE Select | NP_000542.1:p.Leu178Gln | |
| NM_001354723.2:c.*87T>A | NP_001341652.1:n.*87T>A | |
| NM_198156.3:c.410T>A | NP_937799.1:p.Leu137Gln |