Linked Data
ClinVar Variation Id:
304099
dbSNP Id:
rs546565538
ExAC:
11:22249051 A / G
gnomAD v2:
11-22249051-A-G
gnomAD v3:
11-22227505-A-G
gnomAD v4:
11-22227505-A-G
COSMIC:
COSM1353222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22227505A>G , CM000673.2:g.22227505A>G | GRCh38 |
| NC_000011.9:g.22249051A>G , CM000673.1:g.22249051A>G | GRCh37 |
| NC_000011.8:g.22205627A>G | NCBI36 |
| NG_015844.1:g.39330A>G , LRG_868:g.39330A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.117A>G | ENSP00000507766.1:p.Ala39= | |
| ENST00000682341.1:c.525A>G | ENSP00000508251.1:p.Ala175= | |
| ENST00000682530.1:c.*499A>G | ENSP00000506805.1:n.*499A>G | |
| ENST00000682684.1:n.946A>G | ||
| ENST00000683197.1:c.525A>G | ENSP00000507641.1:p.Ala175= | |
| ENST00000683411.1:c.117A>G | ENSP00000508397.1:p.Ala39= | |
| ENST00000683437.1:c.117A>G | ENSP00000508408.1:p.Ala39= | |
| ENST00000683613.1:n.1561A>G | ||
| ENST00000683834.1:n.767A>G | ||
| ENST00000684663.1:c.522A>G | ENSP00000508009.1:p.Ala174= | |
| ENST00000324559.9:c.567A>G MANE Select | ENSP00000315371.9:p.Ala189= | |
| ENST00000648804.1:n.1132A>G | ||
| ENST00000324559.8:c.567A>G | ENSP00000315371.8:p.Ala189= | |
| NM_001142649.1:c.564A>G | NP_001136121.1:p.Ala188= | |
| NM_213599.2:c.567A>G , LRG_868t1:c.567A>G | NP_998764.1:p.Ala189= | |
| XM_005252820.2:c.525A>G | XP_005252877.2:p.Ala175= | |
| XM_005252821.2:c.522A>G | XP_005252878.2:p.Ala174= | |
| XM_005252822.3:c.489A>G | XP_005252879.1:p.Ala163= | |
| XM_005252823.3:c.486A>G | XP_005252880.1:p.Ala162= | |
| XM_011519949.1:c.474A>G | XP_011518251.1:p.Ala158= | |
| XM_005252820.3:c.525A>G | XP_005252877.2:p.Ala175= | |
| XM_005252821.3:c.522A>G | XP_005252878.2:p.Ala174= | |
| XM_005252822.4:c.489A>G | XP_005252879.1:p.Ala163= | |
| XM_011519949.2:c.474A>G | XP_011518251.1:p.Ala158= | |
| NM_001142649.2:c.564A>G | NP_001136121.1:p.Ala188= | |
| NM_213599.3:c.567A>G MANE Select | NP_998764.1:p.Ala189= |