Linked Data
ClinVar Variation Id:
285742
dbSNP Id:
rs368970223
ExAC:
11:22276949 C / T
gnomAD v2:
11-22276949-C-T
gnomAD v3:
11-22255403-C-T
gnomAD v4:
11-22255403-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22255403C>T , CM000673.2:g.22255403C>T | GRCh38 |
| NC_000011.9:g.22276949C>T , CM000673.1:g.22276949C>T | GRCh37 |
| NC_000011.8:g.22233525C>T | NCBI36 |
| NG_015844.1:g.67228C>T , LRG_868:g.67228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.533C>T | ||
| ENST00000682266.1:c.763C>T | ENSP00000507766.1:p.Gln255Ter | |
| ENST00000682341.1:c.1171C>T | ENSP00000508251.1:p.Gln391Ter | |
| ENST00000682530.1:c.*1145C>T | ENSP00000506805.1:n.*1145C>T | |
| ENST00000683197.1:c.1171C>T | ENSP00000507641.1:p.Gln391Ter | |
| ENST00000683411.1:c.763C>T | ENSP00000508397.1:p.Gln255Ter | |
| ENST00000683437.1:c.763C>T | ENSP00000508408.1:p.Gln255Ter | |
| ENST00000683613.1:n.2207C>T | ||
| ENST00000683834.1:n.1413C>T | ||
| ENST00000684663.1:c.1168C>T | ENSP00000508009.1:p.Gln390Ter | |
| ENST00000324559.9:c.1213C>T MANE Select | ENSP00000315371.9:p.Gln405Ter | |
| ENST00000648804.1:n.1548C>T | ||
| ENST00000324559.8:c.1213C>T | ENSP00000315371.8:p.Gln405Ter | |
| NM_001142649.1:c.1210C>T | NP_001136121.1:p.Gln404Ter | |
| NM_213599.2:c.1213C>T , LRG_868t1:c.1213C>T | NP_998764.1:p.Gln405Ter | |
| XM_005252820.2:c.1171C>T | XP_005252877.2:p.Gln391Ter | |
| XM_005252821.2:c.1168C>T | XP_005252878.2:p.Gln390Ter | |
| XM_005252822.3:c.1135C>T | XP_005252879.1:p.Gln379Ter | |
| XM_005252823.3:c.1132C>T | XP_005252880.1:p.Gln378Ter | |
| XM_011519949.1:c.1120C>T | XP_011518251.1:p.Gln374Ter | |
| XM_005252820.3:c.1171C>T | XP_005252877.2:p.Gln391Ter | |
| XM_005252821.3:c.1168C>T | XP_005252878.2:p.Gln390Ter | |
| XM_005252822.4:c.1135C>T | XP_005252879.1:p.Gln379Ter | |
| XM_011519949.2:c.1120C>T | XP_011518251.1:p.Gln374Ter | |
| NM_001142649.2:c.1210C>T | NP_001136121.1:p.Gln404Ter | |
| NM_213599.3:c.1213C>T MANE Select | NP_998764.1:p.Gln405Ter |