Linked Data
ClinVar Variation Id:
502370
dbSNP Id:
rs753138577
ExAC:
11:22296224 C / G
gnomAD v2:
11-22296224-C-G
gnomAD v3:
11-22274678-C-G
gnomAD v4:
11-22274678-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22274678C>G , CM000673.2:g.22274678C>G | GRCh38 |
| NC_000011.9:g.22296224C>G , CM000673.1:g.22296224C>G | GRCh37 |
| NC_000011.8:g.22252800C>G | NCBI36 |
| NG_015844.1:g.86503C>G , LRG_868:g.86503C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.362C>G | ||
| ENST00000682266.1:c.1895C>G | ENSP00000507766.1:p.Ser632Ter | |
| ENST00000682341.1:c.2303C>G | ENSP00000508251.1:p.Ser768Ter | |
| ENST00000683197.1:c.2303C>G | ENSP00000507641.1:p.Ser768Ter | |
| ENST00000683411.1:c.1895C>G | ENSP00000508397.1:p.Ser632Ter | |
| ENST00000683437.1:c.1895C>G | ENSP00000508408.1:p.Ser632Ter | |
| ENST00000683613.1:n.3339C>G | ||
| ENST00000684663.1:c.2300C>G | ENSP00000508009.1:p.Ser767Ter | |
| ENST00000324559.9:c.2345C>G MANE Select | ENSP00000315371.9:p.Ser782Ter | |
| ENST00000648804.1:n.2680C>G | ||
| ENST00000324559.8:c.2345C>G | ENSP00000315371.8:p.Ser782Ter | |
| ENST00000532043.1:n.362C>G | ||
| NM_001142649.1:c.2342C>G | NP_001136121.1:p.Ser781Ter | |
| NM_213599.2:c.2345C>G , LRG_868t1:c.2345C>G | NP_998764.1:p.Ser782Ter | |
| XM_005252820.2:c.2303C>G | XP_005252877.2:p.Ser768Ter | |
| XM_005252821.2:c.2300C>G | XP_005252878.2:p.Ser767Ter | |
| XM_005252822.3:c.2267C>G | XP_005252879.1:p.Ser756Ter | |
| XM_005252823.3:c.2264C>G | XP_005252880.1:p.Ser755Ter | |
| XM_011519949.1:c.2252C>G | XP_011518251.1:p.Ser751Ter | |
| XM_005252820.3:c.2303C>G | XP_005252877.2:p.Ser768Ter | |
| XM_005252821.3:c.2300C>G | XP_005252878.2:p.Ser767Ter | |
| XM_005252822.4:c.2267C>G | XP_005252879.1:p.Ser756Ter | |
| XM_011519949.2:c.2252C>G | XP_011518251.1:p.Ser751Ter | |
| NM_001142649.2:c.2342C>G | NP_001136121.1:p.Ser781Ter | |
| NM_213599.3:c.2345C>G MANE Select | NP_998764.1:p.Ser782Ter |