Linked Data
ClinVar Variation Id:
536729
ClinVar RCV Id:
RCV000645355
dbSNP Id:
rs749645231
ExAC:
11:22242682 C / T
gnomAD v2:
11-22242682-C-T
gnomAD v3:
11-22221136-C-T
gnomAD v4:
11-22221136-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22221136C>T , CM000673.2:g.22221136C>T | GRCh38 |
| NC_000011.9:g.22242682C>T , CM000673.1:g.22242682C>T | GRCh37 |
| NC_000011.8:g.22199258C>T | NCBI36 |
| NG_015844.1:g.32961C>T , LRG_868:g.32961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.-231C>T | ENSP00000507766.1:n.-231C>T | |
| ENST00000682341.1:c.178C>T | ENSP00000508251.1:p.Arg60Ter | |
| ENST00000682530.1:c.*152C>T | ENSP00000506805.1:n.*152C>T | |
| ENST00000682684.1:n.599C>T | ||
| ENST00000683197.1:c.178C>T | ENSP00000507641.1:p.Arg60Ter | |
| ENST00000683411.1:c.-231C>T | ENSP00000508397.1:n.-231C>T | |
| ENST00000683437.1:c.-231C>T | ENSP00000508408.1:n.-231C>T | |
| ENST00000683613.1:n.1214C>T | ||
| ENST00000683834.1:n.420C>T | ||
| ENST00000683897.1:n.464C>T | ||
| ENST00000684365.1:n.589C>T | ||
| ENST00000684663.1:c.175C>T | ENSP00000508009.1:p.Arg59Ter | |
| ENST00000324559.9:c.220C>T MANE Select | ENSP00000315371.9:p.Arg74Ter | |
| ENST00000648804.1:n.785C>T | ||
| ENST00000324559.8:c.220C>T | ENSP00000315371.8:p.Arg74Ter | |
| NM_001142649.1:c.217C>T | NP_001136121.1:p.Arg73Ter | |
| NM_213599.2:c.220C>T , LRG_868t1:c.220C>T | NP_998764.1:p.Arg74Ter | |
| XM_005252820.2:c.178C>T | XP_005252877.2:p.Arg60Ter | |
| XM_005252821.2:c.175C>T | XP_005252878.2:p.Arg59Ter | |
| XM_005252822.3:c.142C>T | XP_005252879.1:p.Arg48Ter | |
| XM_005252823.3:c.139C>T | XP_005252880.1:p.Arg47Ter | |
| XM_011519949.1:c.127C>T | XP_011518251.1:p.Arg43Ter | |
| XM_005252820.3:c.178C>T | XP_005252877.2:p.Arg60Ter | |
| XM_005252821.3:c.175C>T | XP_005252878.2:p.Arg59Ter | |
| XM_005252822.4:c.142C>T | XP_005252879.1:p.Arg48Ter | |
| XM_011519949.2:c.127C>T | XP_011518251.1:p.Arg43Ter | |
| NM_001142649.2:c.217C>T | NP_001136121.1:p.Arg73Ter | |
| NM_213599.3:c.220C>T MANE Select | NP_998764.1:p.Arg74Ter |