Linked Data
ClinVar Variation Id:
289579
dbSNP Id:
rs151022897
ExAC:
11:22272389 A / G
gnomAD v2:
11-22272389-A-G
gnomAD v3:
11-22250843-A-G
gnomAD v4:
11-22250843-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22250843A>G , CM000673.2:g.22250843A>G | GRCh38 |
| NC_000011.9:g.22272389A>G , CM000673.1:g.22272389A>G | GRCh37 |
| NC_000011.8:g.22228965A>G | NCBI36 |
| NG_015844.1:g.62668A>G , LRG_868:g.62668A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.436A>G | ||
| ENST00000682266.1:c.666A>G | ENSP00000507766.1:p.Ser222= | |
| ENST00000682341.1:c.1074A>G | ENSP00000508251.1:p.Ser358= | |
| ENST00000682530.1:c.*1048A>G | ENSP00000506805.1:n.*1048A>G | |
| ENST00000683197.1:c.1074A>G | ENSP00000507641.1:p.Ser358= | |
| ENST00000683411.1:c.666A>G | ENSP00000508397.1:p.Ser222= | |
| ENST00000683437.1:c.666A>G | ENSP00000508408.1:p.Ser222= | |
| ENST00000683613.1:n.2110A>G | ||
| ENST00000683834.1:n.1316A>G | ||
| ENST00000684663.1:c.1071A>G | ENSP00000508009.1:p.Ser357= | |
| ENST00000324559.9:c.1116A>G MANE Select | ENSP00000315371.9:p.Ser372= | |
| ENST00000648804.1:n.1451A>G | ||
| ENST00000324559.8:c.1116A>G | ENSP00000315371.8:p.Ser372= | |
| NM_001142649.1:c.1113A>G | NP_001136121.1:p.Ser371= | |
| NM_213599.2:c.1116A>G , LRG_868t1:c.1116A>G | NP_998764.1:p.Ser372= | |
| XM_005252820.2:c.1074A>G | XP_005252877.2:p.Ser358= | |
| XM_005252821.2:c.1071A>G | XP_005252878.2:p.Ser357= | |
| XM_005252822.3:c.1038A>G | XP_005252879.1:p.Ser346= | |
| XM_005252823.3:c.1035A>G | XP_005252880.1:p.Ser345= | |
| XM_011519949.1:c.1023A>G | XP_011518251.1:p.Ser341= | |
| XM_005252820.3:c.1074A>G | XP_005252877.2:p.Ser358= | |
| XM_005252821.3:c.1071A>G | XP_005252878.2:p.Ser357= | |
| XM_005252822.4:c.1038A>G | XP_005252879.1:p.Ser346= | |
| XM_011519949.2:c.1023A>G | XP_011518251.1:p.Ser341= | |
| NM_001142649.2:c.1113A>G | NP_001136121.1:p.Ser371= | |
| NM_213599.3:c.1116A>G MANE Select | NP_998764.1:p.Ser372= |