Linked Data
ClinVar Variation Id:
2166
dbSNP Id:
rs137854529
ExAC:
11:22296151 C / T
gnomAD v2:
11-22296151-C-T
gnomAD v3:
11-22274605-C-T
gnomAD v4:
11-22274605-C-T
COSMIC:
COSM1581837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22274605C>T , CM000673.2:g.22274605C>T | GRCh38 |
| NC_000011.9:g.22296151C>T , CM000673.1:g.22296151C>T | GRCh37 |
| NC_000011.8:g.22252727C>T | NCBI36 |
| NG_015844.1:g.86430C>T , LRG_868:g.86430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.289C>T | ||
| ENST00000682266.1:c.1822C>T | ENSP00000507766.1:p.Arg608Cys | |
| ENST00000682341.1:c.2230C>T | ENSP00000508251.1:p.Arg744Cys | |
| ENST00000683197.1:c.2230C>T | ENSP00000507641.1:p.Arg744Cys | |
| ENST00000683411.1:c.1822C>T | ENSP00000508397.1:p.Arg608Cys | |
| ENST00000683437.1:c.1822C>T | ENSP00000508408.1:p.Arg608Cys | |
| ENST00000683613.1:n.3266C>T | ||
| ENST00000684663.1:c.2227C>T | ENSP00000508009.1:p.Arg743Cys | |
| ENST00000324559.9:c.2272C>T MANE Select | ENSP00000315371.9:p.Arg758Cys | |
| ENST00000648804.1:n.2607C>T | ||
| ENST00000324559.8:c.2272C>T | ENSP00000315371.8:p.Arg758Cys | |
| ENST00000532043.1:n.289C>T | ||
| NM_001142649.1:c.2269C>T | NP_001136121.1:p.Arg757Cys | |
| NM_213599.2:c.2272C>T , LRG_868t1:c.2272C>T | NP_998764.1:p.Arg758Cys | |
| XM_005252820.2:c.2230C>T | XP_005252877.2:p.Arg744Cys | |
| XM_005252821.2:c.2227C>T | XP_005252878.2:p.Arg743Cys | |
| XM_005252822.3:c.2194C>T | XP_005252879.1:p.Arg732Cys | |
| XM_005252823.3:c.2191C>T | XP_005252880.1:p.Arg731Cys | |
| XM_011519949.1:c.2179C>T | XP_011518251.1:p.Arg727Cys | |
| XM_005252820.3:c.2230C>T | XP_005252877.2:p.Arg744Cys | |
| XM_005252821.3:c.2227C>T | XP_005252878.2:p.Arg743Cys | |
| XM_005252822.4:c.2194C>T | XP_005252879.1:p.Arg732Cys | |
| XM_011519949.2:c.2179C>T | XP_011518251.1:p.Arg727Cys | |
| NM_001142649.2:c.2269C>T | NP_001136121.1:p.Arg757Cys | |
| NM_213599.3:c.2272C>T MANE Select | NP_998764.1:p.Arg758Cys |