Linked Data
ClinVar Variation Id:
161493
ClinVar RCV Id:
RCV000149027
dbSNP Id:
rs193920739
COSMIC:
COSM1178576
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.418804G>C , CM000673.2:g.418804G>C | GRCh38 |
| NC_000011.9:g.418804G>C , CM000673.1:g.418804G>C | GRCh37 |
| NC_000011.8:g.408804G>C | NCBI36 |
| NG_052610.1:g.28208C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332826.7:c.2046C>G MANE Select | ENSP00000332788.6:p.Asp682Glu | |
| ENST00000332826.6:c.2046C>G | ENSP00000332788.6:p.Asp682Glu | |
| ENST00000524802.1:n.538C>G | ||
| ENST00000526142.5:n.2127C>G | ||
| ENST00000528927.5:n.2157C>G | ||
| ENST00000532094.5:n.4751C>G | ||
| ENST00000534161.5:n.1419C>G | ||
| NM_001012302.2:c.2046C>G | NP_001012302.2:p.Asp682Glu | |
| XM_011520046.1:c.2040C>G | XP_011518348.1:p.Asp680Glu | |
| XM_011520049.1:c.1539C>G | XP_011518351.1:p.Asp513Glu | |
| XM_011520053.1:c.1149C>G | XP_011518355.1:p.Asp383Glu | |
| XR_428843.1:n.2102C>G | ||
| XR_428844.1:n.2019C>G | ||
| XR_930862.1:n.2213C>G | ||
| NM_001347882.1:c.1614C>G | NP_001334811.1:p.Asp538Glu | |
| XM_011520053.2:c.1149C>G | XP_011518355.1:p.Asp383Glu | |
| XR_001747846.1:n.2864C>G | ||
| XR_001747847.1:n.2858C>G | ||
| XR_001747848.1:n.2261C>G | ||
| XR_001747849.1:n.2868C>G | ||
| XR_001747850.1:n.3878C>G | ||
| XR_001747851.1:n.3897C>G | ||
| XR_001747852.1:n.2019C>G | ||
| XR_001747853.1:n.2960C>G | ||
| XR_001747854.1:n.1759C>G | ||
| XR_001747855.1:n.1646C>G | ||
| NM_001012302.3:c.2046C>G MANE Select | NP_001012302.2:p.Asp682Glu | |
| NM_001347882.2:c.1614C>G | NP_001334811.1:p.Asp538Glu |