Linked Data
ClinVar Variation Id:
285124
dbSNP Id:
rs201678262
ExAC:
11:22242738 A / G
gnomAD v2:
11-22242738-A-G
gnomAD v3:
11-22221192-A-G
gnomAD v4:
11-22221192-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22221192A>G , CM000673.2:g.22221192A>G | GRCh38 |
| NC_000011.9:g.22242738A>G , CM000673.1:g.22242738A>G | GRCh37 |
| NC_000011.8:g.22199314A>G | NCBI36 |
| NG_015844.1:g.33017A>G , LRG_868:g.33017A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.-175A>G | ENSP00000507766.1:n.-175A>G | |
| ENST00000682341.1:c.234A>G | ENSP00000508251.1:p.Lys78= | |
| ENST00000682530.1:c.*208A>G | ENSP00000506805.1:n.*208A>G | |
| ENST00000682684.1:n.655A>G | ||
| ENST00000683197.1:c.234A>G | ENSP00000507641.1:p.Lys78= | |
| ENST00000683411.1:c.-175A>G | ENSP00000508397.1:n.-175A>G | |
| ENST00000683437.1:c.-175A>G | ENSP00000508408.1:n.-175A>G | |
| ENST00000683613.1:n.1270A>G | ||
| ENST00000683834.1:n.476A>G | ||
| ENST00000683897.1:n.520A>G | ||
| ENST00000684365.1:n.645A>G | ||
| ENST00000684663.1:c.231A>G | ENSP00000508009.1:p.Lys77= | |
| ENST00000324559.9:c.276A>G MANE Select | ENSP00000315371.9:p.Lys92= | |
| ENST00000648804.1:n.841A>G | ||
| ENST00000324559.8:c.276A>G | ENSP00000315371.8:p.Lys92= | |
| NM_001142649.1:c.273A>G | NP_001136121.1:p.Lys91= | |
| NM_213599.2:c.276A>G , LRG_868t1:c.276A>G | NP_998764.1:p.Lys92= | |
| XM_005252820.2:c.234A>G | XP_005252877.2:p.Lys78= | |
| XM_005252821.2:c.231A>G | XP_005252878.2:p.Lys77= | |
| XM_005252822.3:c.198A>G | XP_005252879.1:p.Lys66= | |
| XM_005252823.3:c.195A>G | XP_005252880.1:p.Lys65= | |
| XM_011519949.1:c.183A>G | XP_011518251.1:p.Lys61= | |
| XM_005252820.3:c.234A>G | XP_005252877.2:p.Lys78= | |
| XM_005252821.3:c.231A>G | XP_005252878.2:p.Lys77= | |
| XM_005252822.4:c.198A>G | XP_005252879.1:p.Lys66= | |
| XM_011519949.2:c.183A>G | XP_011518251.1:p.Lys61= | |
| NM_001142649.2:c.273A>G | NP_001136121.1:p.Lys91= | |
| NM_213599.3:c.276A>G MANE Select | NP_998764.1:p.Lys92= |