Linked Data
ClinVar Variation Id:
376048
ClinVar RCV Id:
RCV000428620
dbSNP Id:
rs121913346
COSMIC:
COSM14368
CIViC:
CA16602515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149796T>A , CM000665.2:g.10149796T>A | GRCh38 |
| NC_000003.11:g.10191480T>A , CM000665.1:g.10191480T>A | GRCh37 |
| NC_000003.10:g.10166480T>A | NCBI36 |
| NG_008212.3:g.13162T>A , LRG_322:g.13162T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*150T>A | ENSP00000512434.1:n.*150T>A | |
| ENST00000696143.1:c.609T>A | ENSP00000512435.1:n.609T>A | |
| ENST00000696153.1:c.584T>A | ENSP00000512444.1:p.Leu195Gln | |
| ENST00000256474.3:c.473T>A MANE Select | ENSP00000256474.3:p.Leu158Gln | |
| ENST00000256474.2:c.473T>A | ENSP00000256474.2:p.Leu158Gln | |
| ENST00000345392.2:c.350T>A | ENSP00000344757.2:p.Leu117Gln | |
| ENST00000477538.1:n.609T>A | ||
| NM_000551.3:c.473T>A , LRG_322t1:c.473T>A | NP_000542.1:p.Leu158Gln | |
| NM_198156.2:c.350T>A | NP_937799.1:p.Leu117Gln | |
| NM_001354723.1:c.*27T>A | NP_001341652.1:n.*27T>A | |
| NM_000551.4:c.473T>A MANE Select | NP_000542.1:p.Leu158Gln | |
| NM_001354723.2:c.*27T>A | NP_001341652.1:n.*27T>A | |
| NM_198156.3:c.350T>A | NP_937799.1:p.Leu117Gln |