Linked Data
ClinVar Variation Id:
497402
dbSNP Id:
rs749698519
ExAC:
11:22239826 G / A
gnomAD v2:
11-22239826-G-A
gnomAD v4:
11-22218280-G-A
COSMIC:
COSM5703954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22218280G>A , CM000673.2:g.22218280G>A | GRCh38 |
| NC_000011.9:g.22239826G>A , CM000673.1:g.22239826G>A | GRCh37 |
| NC_000011.8:g.22196402G>A | NCBI36 |
| NG_015844.1:g.30105G>A , LRG_868:g.30105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682084.1:n.3347G>A | ||
| ENST00000682266.1:c.-270-2817G>A | ENSP00000507766.1:n.-270-2817G>A | |
| ENST00000682341.1:c.139-2817G>A | ENSP00000508251.1:n.139-2817G>A | |
| ENST00000682530.1:c.136-463G>A | ENSP00000506805.1:n.136-463G>A | |
| ENST00000682684.1:n.560-2817G>A | ||
| ENST00000683197.1:c.139-2817G>A | ENSP00000507641.1:n.139-2817G>A | |
| ENST00000683411.1:c.-270-2817G>A | ENSP00000508397.1:n.-270-2817G>A | |
| ENST00000683437.1:c.-270-2817G>A | ENSP00000508408.1:n.-270-2817G>A | |
| ENST00000683834.1:n.381-2817G>A | ||
| ENST00000683897.1:n.425-2817G>A | ||
| ENST00000684365.1:n.550-2817G>A | ||
| ENST00000684663.1:c.136-2817G>A | ENSP00000508009.1:n.136-2817G>A | |
| ENST00000324559.9:c.173G>A MANE Select | ENSP00000315371.9:p.Arg58Gln | |
| ENST00000648804.1:n.670-306G>A | ||
| ENST00000324559.8:c.173G>A | ENSP00000315371.8:p.Arg58Gln | |
| NM_001142649.1:c.170G>A | NP_001136121.1:p.Arg57Gln | |
| NM_213599.2:c.173G>A , LRG_868t1:c.173G>A | NP_998764.1:p.Arg58Gln | |
| XM_005252820.2:c.139-2817G>A | XP_005252877.2:n.139-2817G>A | |
| XM_005252821.2:c.136-2817G>A | XP_005252878.2:n.136-2817G>A | |
| XM_005252822.3:c.95G>A | XP_005252879.1:p.Arg32Gln | |
| XM_005252823.3:c.92G>A | XP_005252880.1:p.Arg31Gln | |
| XM_011519949.1:c.88-2817G>A | XP_011518251.1:n.88-2817G>A | |
| XM_005252820.3:c.139-2817G>A | XP_005252877.2:n.139-2817G>A | |
| XM_005252821.3:c.136-2817G>A | XP_005252878.2:n.136-2817G>A | |
| XM_005252822.4:c.95G>A | XP_005252879.1:p.Arg32Gln | |
| XM_011519949.2:c.88-2817G>A | XP_011518251.1:n.88-2817G>A | |
| NM_001142649.2:c.170G>A | NP_001136121.1:p.Arg57Gln | |
| NM_213599.3:c.173G>A MANE Select | NP_998764.1:p.Arg58Gln |