Linked Data
ClinVar Variation Id:
411955
ClinVar RCV Id:
RCV000474133
dbSNP Id:
rs28940297
COSMIC:
COSM1715966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149811T>G , CM000665.2:g.10149811T>G | GRCh38 |
| NC_000003.11:g.10191495T>G , CM000665.1:g.10191495T>G | GRCh37 |
| NC_000003.10:g.10166495T>G | NCBI36 |
| NG_008212.3:g.13177T>G , LRG_322:g.13177T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*165T>G | ENSP00000512434.1:n.*165T>G | |
| ENST00000696143.1:c.624T>G | ENSP00000512435.1:n.624T>G | |
| ENST00000696153.1:c.599T>G | ENSP00000512444.1:p.Leu200Arg | |
| ENST00000256474.3:c.488T>G MANE Select | ENSP00000256474.3:p.Leu163Arg | |
| ENST00000256474.2:c.488T>G | ENSP00000256474.2:p.Leu163Arg | |
| ENST00000345392.2:c.365T>G | ENSP00000344757.2:p.Leu122Arg | |
| ENST00000477538.1:n.624T>G | ||
| NM_000551.3:c.488T>G , LRG_322t1:c.488T>G | NP_000542.1:p.Leu163Arg | |
| NM_198156.2:c.365T>G | NP_937799.1:p.Leu122Arg | |
| NM_001354723.1:c.*42T>G | NP_001341652.1:n.*42T>G | |
| NM_000551.4:c.488T>G MANE Select | NP_000542.1:p.Leu163Arg | |
| NM_001354723.2:c.*42T>G | NP_001341652.1:n.*42T>G | |
| NM_198156.3:c.365T>G | NP_937799.1:p.Leu122Arg |