Linked Data
ClinVar Variation Id:
1101068
ClinVar RCV Id:
RCV001423891
dbSNP Id:
rs747146523
gnomAD v2:
11-22242720-C-T
gnomAD v3:
11-22221174-C-T
gnomAD v4:
11-22221174-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22221174C>T , CM000673.2:g.22221174C>T | GRCh38 |
| NC_000011.9:g.22242720C>T , CM000673.1:g.22242720C>T | GRCh37 |
| NC_000011.8:g.22199296C>T | NCBI36 |
| NG_015844.1:g.32999C>T , LRG_868:g.32999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.-193C>T | ENSP00000507766.1:n.-193C>T | |
| ENST00000682341.1:c.216C>T | ENSP00000508251.1:p.Tyr72= | |
| ENST00000682530.1:c.*190C>T | ENSP00000506805.1:n.*190C>T | |
| ENST00000682684.1:n.637C>T | ||
| ENST00000683197.1:c.216C>T | ENSP00000507641.1:p.Tyr72= | |
| ENST00000683411.1:c.-193C>T | ENSP00000508397.1:n.-193C>T | |
| ENST00000683437.1:c.-193C>T | ENSP00000508408.1:n.-193C>T | |
| ENST00000683613.1:n.1252C>T | ||
| ENST00000683834.1:n.458C>T | ||
| ENST00000683897.1:n.502C>T | ||
| ENST00000684365.1:n.627C>T | ||
| ENST00000684663.1:c.213C>T | ENSP00000508009.1:p.Tyr71= | |
| ENST00000324559.9:c.258C>T MANE Select | ENSP00000315371.9:p.Tyr86= | |
| ENST00000648804.1:n.823C>T | ||
| ENST00000324559.8:c.258C>T | ENSP00000315371.8:p.Tyr86= | |
| NM_001142649.1:c.255C>T | NP_001136121.1:p.Tyr85= | |
| NM_213599.2:c.258C>T , LRG_868t1:c.258C>T | NP_998764.1:p.Tyr86= | |
| XM_005252820.2:c.216C>T | XP_005252877.2:p.Tyr72= | |
| XM_005252821.2:c.213C>T | XP_005252878.2:p.Tyr71= | |
| XM_005252822.3:c.180C>T | XP_005252879.1:p.Tyr60= | |
| XM_005252823.3:c.177C>T | XP_005252880.1:p.Tyr59= | |
| XM_011519949.1:c.165C>T | XP_011518251.1:p.Tyr55= | |
| XM_005252820.3:c.216C>T | XP_005252877.2:p.Tyr72= | |
| XM_005252821.3:c.213C>T | XP_005252878.2:p.Tyr71= | |
| XM_005252822.4:c.180C>T | XP_005252879.1:p.Tyr60= | |
| XM_011519949.2:c.165C>T | XP_011518251.1:p.Tyr55= | |
| NM_001142649.2:c.255C>T | NP_001136121.1:p.Tyr85= | |
| NM_213599.3:c.258C>T MANE Select | NP_998764.1:p.Tyr86= |