Linked Data
ClinVar Variation Id:
283967
dbSNP Id:
rs139259793
ExAC:
11:22257749 A / G
gnomAD v2:
11-22257749-A-G
gnomAD v3:
11-22236203-A-G
gnomAD v4:
11-22236203-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22236203A>G , CM000673.2:g.22236203A>G | GRCh38 |
| NC_000011.9:g.22257749A>G , CM000673.1:g.22257749A>G | GRCh37 |
| NC_000011.8:g.22214325A>G | NCBI36 |
| NG_015844.1:g.48028A>G , LRG_868:g.48028A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.239A>G | ENSP00000507766.1:p.Asp80Gly | |
| ENST00000682341.1:c.647A>G | ENSP00000508251.1:p.Asp216Gly | |
| ENST00000682530.1:c.*621A>G | ENSP00000506805.1:n.*621A>G | |
| ENST00000682684.1:n.1068A>G | ||
| ENST00000683197.1:c.647A>G | ENSP00000507641.1:p.Asp216Gly | |
| ENST00000683411.1:c.239A>G | ENSP00000508397.1:p.Asp80Gly | |
| ENST00000683437.1:c.239A>G | ENSP00000508408.1:p.Asp80Gly | |
| ENST00000683613.1:n.1683A>G | ||
| ENST00000683834.1:n.889A>G | ||
| ENST00000684663.1:c.644A>G | ENSP00000508009.1:p.Asp215Gly | |
| ENST00000324559.9:c.689A>G MANE Select | ENSP00000315371.9:p.Asp230Gly | |
| ENST00000648804.1:n.1213+8617A>G | ||
| ENST00000324559.8:c.689A>G | ENSP00000315371.8:p.Asp230Gly | |
| NM_001142649.1:c.686A>G | NP_001136121.1:p.Asp229Gly | |
| NM_213599.2:c.689A>G , LRG_868t1:c.689A>G | NP_998764.1:p.Asp230Gly | |
| XM_005252820.2:c.647A>G | XP_005252877.2:p.Asp216Gly | |
| XM_005252821.2:c.644A>G | XP_005252878.2:p.Asp215Gly | |
| XM_005252822.3:c.611A>G | XP_005252879.1:p.Asp204Gly | |
| XM_005252823.3:c.608A>G | XP_005252880.1:p.Asp203Gly | |
| XM_011519949.1:c.596A>G | XP_011518251.1:p.Asp199Gly | |
| XM_005252820.3:c.647A>G | XP_005252877.2:p.Asp216Gly | |
| XM_005252821.3:c.644A>G | XP_005252878.2:p.Asp215Gly | |
| XM_005252822.4:c.611A>G | XP_005252879.1:p.Asp204Gly | |
| XM_011519949.2:c.596A>G | XP_011518251.1:p.Asp199Gly | |
| NM_001142649.2:c.686A>G | NP_001136121.1:p.Asp229Gly | |
| NM_213599.3:c.689A>G MANE Select | NP_998764.1:p.Asp230Gly |