Linked Data
ClinVar Variation Id:
304156
dbSNP Id:
rs115249135
gnomAD v2:
11-22304180-A-G
gnomAD v3:
11-22282634-A-G
gnomAD v4:
11-22282634-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22282634A>G , CM000673.2:g.22282634A>G | GRCh38 |
| NC_000011.9:g.22304180A>G , CM000673.1:g.22304180A>G | GRCh37 |
| NC_000011.8:g.22260756A>G | NCBI36 |
| NG_015844.1:g.94459A>G , LRG_868:g.94459A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.*2869A>G | ENSP00000507766.1:n.*2869A>G | |
| ENST00000682341.1:c.*2869A>G | ENSP00000508251.1:n.*2869A>G | |
| ENST00000683197.1:c.*3075A>G | ENSP00000507641.1:n.*3075A>G | |
| ENST00000683411.1:c.*2869A>G | ENSP00000508397.1:n.*2869A>G | |
| ENST00000683437.1:c.*2869A>G | ENSP00000508408.1:n.*2869A>G | |
| ENST00000683613.1:n.6605A>G | ||
| ENST00000684663.1:c.*2869A>G | ENSP00000508009.1:n.*2869A>G | |
| ENST00000324559.9:c.*2869A>G MANE Select | ENSP00000315371.9:n.*2869A>G | |
| ENST00000648804.1:n.5946A>G | ||
| ENST00000324559.8:c.*2869A>G | ENSP00000315371.8:n.*2869A>G | |
| NM_001142649.1:c.*2869A>G | NP_001136121.1:n.*2869A>G | |
| NM_213599.2:c.*2869A>G , LRG_868t1:c.*2869A>G | NP_998764.1:n.*2869A>G | |
| XM_005252820.2:c.*2869A>G | XP_005252877.2:n.*2869A>G | |
| XM_005252821.2:c.*2869A>G | XP_005252878.2:n.*2869A>G | |
| XM_005252822.3:c.*2869A>G | XP_005252879.1:n.*2869A>G | |
| XM_005252823.3:c.*2869A>G | XP_005252880.1:n.*2869A>G | |
| XM_011519949.1:c.*2869A>G | XP_011518251.1:n.*2869A>G | |
| XM_005252820.3:c.*2869A>G | XP_005252877.2:n.*2869A>G | |
| XM_005252821.3:c.*2869A>G | XP_005252878.2:n.*2869A>G | |
| XM_005252822.4:c.*2869A>G | XP_005252879.1:n.*2869A>G | |
| XM_011519949.2:c.*2869A>G | XP_011518251.1:n.*2869A>G | |
| NM_001142649.2:c.*2869A>G | NP_001136121.1:n.*2869A>G | |
| NM_213599.3:c.*2869A>G MANE Select | NP_998764.1:n.*2869A>G |