Linked Data
ClinVar Variation Id:
140555
dbSNP Id:
rs137854527
gnomAD v2:
11-22291977-A-G
gnomAD v3:
11-22270431-A-G
gnomAD v4:
11-22270431-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22270431A>G , CM000673.2:g.22270431A>G | GRCh38 |
| NC_000011.9:g.22291977A>G , CM000673.1:g.22291977A>G | GRCh37 |
| NC_000011.8:g.22248553A>G | NCBI36 |
| NG_015844.1:g.82256A>G , LRG_868:g.82256A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.35A>G | ||
| ENST00000682266.1:c.1568A>G | ENSP00000507766.1:p.Tyr523Cys | |
| ENST00000682341.1:c.1976A>G | ENSP00000508251.1:p.Tyr659Cys | |
| ENST00000683197.1:c.1976A>G | ENSP00000507641.1:p.Tyr659Cys | |
| ENST00000683411.1:c.1568A>G | ENSP00000508397.1:p.Tyr523Cys | |
| ENST00000683437.1:c.1568A>G | ENSP00000508408.1:p.Tyr523Cys | |
| ENST00000683613.1:n.3012A>G | ||
| ENST00000684663.1:c.1973A>G | ENSP00000508009.1:p.Tyr658Cys | |
| ENST00000324559.9:c.2018A>G MANE Select | ENSP00000315371.9:p.Tyr673Cys | |
| ENST00000648804.1:n.2353A>G | ||
| ENST00000324559.8:c.2018A>G | ENSP00000315371.8:p.Tyr673Cys | |
| ENST00000532043.1:n.35A>G | ||
| NM_001142649.1:c.2015A>G | NP_001136121.1:p.Tyr672Cys | |
| NM_213599.2:c.2018A>G , LRG_868t1:c.2018A>G | NP_998764.1:p.Tyr673Cys | |
| XM_005252820.2:c.1976A>G | XP_005252877.2:p.Tyr659Cys | |
| XM_005252821.2:c.1973A>G | XP_005252878.2:p.Tyr658Cys | |
| XM_005252822.3:c.1940A>G | XP_005252879.1:p.Tyr647Cys | |
| XM_005252823.3:c.1937A>G | XP_005252880.1:p.Tyr646Cys | |
| XM_011519949.1:c.1925A>G | XP_011518251.1:p.Tyr642Cys | |
| XM_005252820.3:c.1976A>G | XP_005252877.2:p.Tyr659Cys | |
| XM_005252821.3:c.1973A>G | XP_005252878.2:p.Tyr658Cys | |
| XM_005252822.4:c.1940A>G | XP_005252879.1:p.Tyr647Cys | |
| XM_011519949.2:c.1925A>G | XP_011518251.1:p.Tyr642Cys | |
| NM_001142649.2:c.2015A>G | NP_001136121.1:p.Tyr672Cys | |
| NM_213599.3:c.2018A>G MANE Select | NP_998764.1:p.Tyr673Cys |