Linked Data
ClinVar Variation Id:
285071
dbSNP Id:
rs143331003
ExAC:
11:22249009 C / G
gnomAD v2:
11-22249009-C-G
gnomAD v3:
11-22227463-C-G
gnomAD v4:
11-22227463-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22227463C>G , CM000673.2:g.22227463C>G | GRCh38 |
| NC_000011.9:g.22249009C>G , CM000673.1:g.22249009C>G | GRCh37 |
| NC_000011.8:g.22205585C>G | NCBI36 |
| NG_015844.1:g.39288C>G , LRG_868:g.39288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.75C>G | ENSP00000507766.1:p.Leu25= | |
| ENST00000682341.1:c.483C>G | ENSP00000508251.1:p.Leu161= | |
| ENST00000682530.1:c.*457C>G | ENSP00000506805.1:n.*457C>G | |
| ENST00000682684.1:n.904C>G | ||
| ENST00000683197.1:c.483C>G | ENSP00000507641.1:p.Leu161= | |
| ENST00000683411.1:c.75C>G | ENSP00000508397.1:p.Leu25= | |
| ENST00000683437.1:c.75C>G | ENSP00000508408.1:p.Leu25= | |
| ENST00000683613.1:n.1519C>G | ||
| ENST00000683834.1:n.725C>G | ||
| ENST00000684663.1:c.480C>G | ENSP00000508009.1:p.Leu160= | |
| ENST00000324559.9:c.525C>G MANE Select | ENSP00000315371.9:p.Leu175= | |
| ENST00000648804.1:n.1090C>G | ||
| ENST00000324559.8:c.525C>G | ENSP00000315371.8:p.Leu175= | |
| NM_001142649.1:c.522C>G | NP_001136121.1:p.Leu174= | |
| NM_213599.2:c.525C>G , LRG_868t1:c.525C>G | NP_998764.1:p.Leu175= | |
| XM_005252820.2:c.483C>G | XP_005252877.2:p.Leu161= | |
| XM_005252821.2:c.480C>G | XP_005252878.2:p.Leu160= | |
| XM_005252822.3:c.447C>G | XP_005252879.1:p.Leu149= | |
| XM_005252823.3:c.444C>G | XP_005252880.1:p.Leu148= | |
| XM_011519949.1:c.432C>G | XP_011518251.1:p.Leu144= | |
| XM_005252820.3:c.483C>G | XP_005252877.2:p.Leu161= | |
| XM_005252821.3:c.480C>G | XP_005252878.2:p.Leu160= | |
| XM_005252822.4:c.447C>G | XP_005252879.1:p.Leu149= | |
| XM_011519949.2:c.432C>G | XP_011518251.1:p.Leu144= | |
| NM_001142649.2:c.522C>G | NP_001136121.1:p.Leu174= | |
| NM_213599.3:c.525C>G MANE Select | NP_998764.1:p.Leu175= |