Linked Data
ClinVar Variation Id:
161783
ClinVar RCV Id:
RCV000149319
dbSNP Id:
rs193921041
COSMIC:
COSM1179039
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99291752G>C , CM000668.2:g.99291752G>C | GRCh38 |
| NC_000006.11:g.99739628G>C , CM000668.1:g.99739628G>C | GRCh37 |
| NC_000006.10:g.99846349G>C | NCBI36 |
| NG_051943.1:g.63559C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389677.6:c.892C>G MANE Select | ENSP00000374328.4:p.Gln298Glu | |
| ENST00000389677.5:c.892C>G | ENSP00000374328.4:p.Gln298Glu | |
| ENST00000538471.1:c.52C>G | ENSP00000445267.1:p.Gln18Glu | |
| NM_032511.2:c.892C>G | NP_115900.1:p.Gln298Glu | |
| XM_005267164.3:c.493C>G | XP_005267221.1:p.Gln165Glu | |
| XM_006715581.2:c.733C>G | XP_006715644.1:p.Gln245Glu | |
| XM_006715582.2:c.244C>G | XP_006715645.1:p.Gln82Glu | |
| XM_011536186.1:c.733C>G | XP_011534488.1:p.Gln245Glu | |
| XM_011536187.1:c.*115C>G | XP_011534489.1:n.*115C>G | |
| XM_011536188.1:c.529C>G | XP_011534490.1:p.Gln177Glu | |
| NM_001346530.1:c.529C>G | NP_001333459.1:p.Gln177Glu | |
| NM_001346531.1:c.733C>G | NP_001333460.1:p.Gln245Glu | |
| NM_001346532.1:c.733C>G | NP_001333461.1:p.Gln245Glu | |
| NM_001346533.1:c.529C>G | NP_001333462.1:p.Gln177Glu | |
| NM_032511.3:c.892C>G | NP_115900.1:p.Gln298Glu | |
| NR_144463.1:n.819C>G | ||
| NR_144464.1:n.784C>G | ||
| NM_032511.4:c.892C>G MANE Select | NP_115900.1:p.Gln298Glu | |
| NM_001346530.2:c.529C>G | NP_001333459.1:p.Gln177Glu | |
| NM_001346531.2:c.733C>G | NP_001333460.1:p.Gln245Glu | |
| NR_144463.2:n.565C>G |