Linked Data
ClinVar Variation Id:
1015522
ClinVar RCV Id:
RCV001314395
dbSNP Id:
rs776241052
ExAC:
11:4112743 C / G
gnomAD v2:
11-4112743-C-G
gnomAD v4:
11-4091513-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4091513C>G , CM000673.2:g.4091513C>G | GRCh38 |
| NC_000011.9:g.4112743C>G , CM000673.1:g.4112743C>G | GRCh37 |
| NC_000011.8:g.4069319C>G | NCBI36 |
| NG_016277.1:g.240811C>G , LRG_164:g.240811C>G | |
| NG_027992.2:g.1820C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.*187C>G | ENSP00000432210.2:n.*187C>G | |
| ENST00000698910.1:c.1284C>G | ENSP00000514024.1:p.Asp428Glu | |
| ENST00000698911.1:c.1869C>G | ENSP00000514025.1:p.Asp623Glu | |
| ENST00000698912.1:c.*187C>G | ENSP00000514026.1:n.*187C>G | |
| ENST00000698913.1:c.1551C>G | ENSP00000514027.1:p.Asp517Glu | |
| ENST00000698915.1:c.1857C>G | ENSP00000514029.1:p.Asp619Glu | |
| ENST00000698916.1:c.1794C>G | ENSP00000514030.1:p.Asp598Glu | |
| ENST00000698918.1:c.*1511C>G | ENSP00000514031.1:n.*1511C>G | |
| ENST00000698919.1:c.*706C>G | ENSP00000514032.1:n.*706C>G | |
| ENST00000698920.1:n.1073C>G | ||
| ENST00000526596.2:c.1866C>G MANE Select | ENSP00000433266.2:p.Asp622Glu | |
| ENST00000300737.8:c.1773C>G | ENSP00000300737.4:p.Asp591Glu | |
| ENST00000526156.1:n.571C>G | ||
| ENST00000526596.1:c.1058C>G | ||
| ENST00000527651.5:c.*187C>G | ENSP00000436208.1:n.*187C>G | |
| ENST00000533977.5:c.1254C>G | ENSP00000434767.1:p.Asp418Glu | |
| ENST00000616714.4:c.2091C>G | ENSP00000478059.1:p.Asp697Glu | |
| NM_001277961.1:c.2091C>G | NP_001264890.1:p.Asp697Glu | |
| NM_001277962.1:c.*187C>G | NP_001264891.1:n.*187C>G | |
| NM_003156.3:c.1773C>G , LRG_164t1:c.1773C>G | NP_003147.2:p.Asp591Glu | |
| NM_001277962.2:c.*187C>G | NP_001264891.1:n.*187C>G | |
| NM_001277961.3:c.2091C>G | NP_001264890.1:p.Asp697Glu | |
| NM_001382566.1:c.1869C>G | NP_001369495.1:p.Asp623Glu | |
| NM_001382567.1:c.1866C>G MANE Select | NP_001369496.1:p.Asp622Glu | |
| NM_001382568.1:c.1794C>G | NP_001369497.1:p.Asp598Glu | |
| NM_001382569.1:c.1638C>G | NP_001369498.1:p.Asp546Glu | |
| NM_001382570.1:c.1545C>G | NP_001369499.1:p.Asp515Glu | |
| NM_001382571.1:c.1293C>G | NP_001369500.1:p.Asp431Glu | |
| NM_001382575.1:c.1551C>G | NP_001369504.1:p.Asp517Glu | |
| NM_001382576.1:c.1551C>G | NP_001369505.1:p.Asp517Glu | |
| NM_001382577.1:c.1551C>G | NP_001369506.1:p.Asp517Glu | |
| NM_001382578.1:c.*187C>G | NP_001369507.1:n.*187C>G | |
| NM_001382579.1:c.*187C>G | NP_001369508.1:n.*187C>G | |
| NM_001382580.1:c.*187C>G | NP_001369509.1:n.*187C>G | |
| NM_001382581.1:c.1284C>G | NP_001369510.1:p.Asp428Glu | |
| NM_003156.4:c.1773C>G | NP_003147.2:p.Asp591Glu | |
| NR_168436.1:n.1697C>G | ||
| NR_168437.1:n.2202C>G | ||
| NR_168438.1:n.2024C>G |