Linked Data
ClinVar Variation Id:
197403
dbSNP Id:
rs143777403
ExAC:
11:22239808 A / G
gnomAD v2:
11-22239808-A-G
gnomAD v3:
11-22218262-A-G
gnomAD v4:
11-22218262-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22218262A>G , CM000673.2:g.22218262A>G | GRCh38 |
| NC_000011.9:g.22239808A>G , CM000673.1:g.22239808A>G | GRCh37 |
| NC_000011.8:g.22196384A>G | NCBI36 |
| NG_015844.1:g.30087A>G , LRG_868:g.30087A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682084.1:n.3329A>G | ||
| ENST00000682266.1:c.-270-2835A>G | ENSP00000507766.1:n.-270-2835A>G | |
| ENST00000682341.1:c.139-2835A>G | ENSP00000508251.1:n.139-2835A>G | |
| ENST00000682530.1:c.136-481A>G | ENSP00000506805.1:n.136-481A>G | |
| ENST00000682684.1:n.560-2835A>G | ||
| ENST00000683197.1:c.139-2835A>G | ENSP00000507641.1:n.139-2835A>G | |
| ENST00000683411.1:c.-270-2835A>G | ENSP00000508397.1:n.-270-2835A>G | |
| ENST00000683437.1:c.-270-2835A>G | ENSP00000508408.1:n.-270-2835A>G | |
| ENST00000683834.1:n.381-2835A>G | ||
| ENST00000683897.1:n.425-2835A>G | ||
| ENST00000684365.1:n.550-2835A>G | ||
| ENST00000684663.1:c.136-2835A>G | ENSP00000508009.1:n.136-2835A>G | |
| ENST00000324559.9:c.155A>G MANE Select | ENSP00000315371.9:p.Asn52Ser | |
| ENST00000648804.1:n.670-324A>G | ||
| ENST00000324559.8:c.155A>G | ENSP00000315371.8:p.Asn52Ser | |
| NM_001142649.1:c.152A>G | NP_001136121.1:p.Asn51Ser | |
| NM_213599.2:c.155A>G , LRG_868t1:c.155A>G | NP_998764.1:p.Asn52Ser | |
| XM_005252820.2:c.139-2835A>G | XP_005252877.2:n.139-2835A>G | |
| XM_005252821.2:c.136-2835A>G | XP_005252878.2:n.136-2835A>G | |
| XM_005252822.3:c.77A>G | XP_005252879.1:p.Asn26Ser | |
| XM_005252823.3:c.74A>G | XP_005252880.1:p.Asn25Ser | |
| XM_011519949.1:c.88-2835A>G | XP_011518251.1:n.88-2835A>G | |
| XM_005252820.3:c.139-2835A>G | XP_005252877.2:n.139-2835A>G | |
| XM_005252821.3:c.136-2835A>G | XP_005252878.2:n.136-2835A>G | |
| XM_005252822.4:c.77A>G | XP_005252879.1:p.Asn26Ser | |
| XM_011519949.2:c.88-2835A>G | XP_011518251.1:n.88-2835A>G | |
| NM_001142649.2:c.152A>G | NP_001136121.1:p.Asn51Ser | |
| NM_213599.3:c.155A>G MANE Select | NP_998764.1:p.Asn52Ser |