Linked Data
ClinVar Variation Id:
1084383
dbSNP Id:
rs190156691
ExAC:
1:193111157 A / G
gnomAD v2:
1-193111157-A-G
gnomAD v3:
1-193142027-A-G
gnomAD v4:
1-193142027-A-G
COSMIC:
COSM127587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142027A>G , CM000663.2:g.193142027A>G | GRCh38 |
| NC_000001.10:g.193111157A>G , CM000663.1:g.193111157A>G | GRCh37 |
| NC_000001.9:g.191377780A>G | NCBI36 |
| NG_012691.1:g.25070A>G , LRG_507:g.25070A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.690A>G MANE Select | ENSP00000356405.4:p.Val230= | |
| ENST00000635846.1:c.690A>G | ENSP00000490035.1:p.Val230= | |
| ENST00000643006.1:c.690A>G | ENSP00000496633.1:p.Val230= | |
| ENST00000643784.1:c.*166A>G | ENSP00000494944.1:n.*166A>G | |
| ENST00000647662.1:n.591A>G | ||
| ENST00000648071.1:c.*666A>G | ENSP00000497513.1:n.*666A>G | |
| ENST00000649606.1:n.703A>G | ||
| ENST00000649895.1:n.908A>G | ||
| ENST00000650197.1:c.690A>G | ENSP00000496929.1:p.Val230= | |
| ENST00000367435.3:c.690A>G | ENSP00000356405.3:p.Val230= | |
| NM_024529.4:c.690A>G , LRG_507t1:c.690A>G | NP_078805.3:p.Val230= | |
| XM_006711537.2:c.690A>G | XP_006711600.1:p.Val230= | |
| XM_006711537.4:c.690A>G | XP_006711600.1:p.Val230= | |
| NM_024529.5:c.690A>G MANE Select | NP_078805.3:p.Val230= |