Linked Data
ClinVar Variation Id:
263311
dbSNP Id:
rs781554633
ExAC:
11:22276963 A / G
gnomAD v2:
11-22276963-A-G
gnomAD v4:
11-22255417-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22255417A>G , CM000673.2:g.22255417A>G | GRCh38 |
| NC_000011.9:g.22276963A>G , CM000673.1:g.22276963A>G | GRCh37 |
| NC_000011.8:g.22233539A>G | NCBI36 |
| NG_015844.1:g.67242A>G , LRG_868:g.67242A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.547A>G | ||
| ENST00000682266.1:c.777A>G | ENSP00000507766.1:p.Glu259= | |
| ENST00000682341.1:c.1185A>G | ENSP00000508251.1:p.Glu395= | |
| ENST00000682530.1:c.*1159A>G | ENSP00000506805.1:n.*1159A>G | |
| ENST00000683197.1:c.1185A>G | ENSP00000507641.1:p.Glu395= | |
| ENST00000683411.1:c.777A>G | ENSP00000508397.1:p.Glu259= | |
| ENST00000683437.1:c.777A>G | ENSP00000508408.1:p.Glu259= | |
| ENST00000683613.1:n.2221A>G | ||
| ENST00000683834.1:n.1427A>G | ||
| ENST00000684663.1:c.1182A>G | ENSP00000508009.1:p.Glu394= | |
| ENST00000324559.9:c.1227A>G MANE Select | ENSP00000315371.9:p.Glu409= | |
| ENST00000648804.1:n.1562A>G | ||
| ENST00000324559.8:c.1227A>G | ENSP00000315371.8:p.Glu409= | |
| NM_001142649.1:c.1224A>G | NP_001136121.1:p.Glu408= | |
| NM_213599.2:c.1227A>G , LRG_868t1:c.1227A>G | NP_998764.1:p.Glu409= | |
| XM_005252820.2:c.1185A>G | XP_005252877.2:p.Glu395= | |
| XM_005252821.2:c.1182A>G | XP_005252878.2:p.Glu394= | |
| XM_005252822.3:c.1149A>G | XP_005252879.1:p.Glu383= | |
| XM_005252823.3:c.1146A>G | XP_005252880.1:p.Glu382= | |
| XM_011519949.1:c.1134A>G | XP_011518251.1:p.Glu378= | |
| XM_005252820.3:c.1185A>G | XP_005252877.2:p.Glu395= | |
| XM_005252821.3:c.1182A>G | XP_005252878.2:p.Glu394= | |
| XM_005252822.4:c.1149A>G | XP_005252879.1:p.Glu383= | |
| XM_011519949.2:c.1134A>G | XP_011518251.1:p.Glu378= | |
| NM_001142649.2:c.1224A>G | NP_001136121.1:p.Glu408= | |
| NM_213599.3:c.1227A>G MANE Select | NP_998764.1:p.Glu409= |