Linked Data
ClinVar Variation Id:
304104
dbSNP Id:
rs146341538
ExAC:
11:22291883 C / G
gnomAD v2:
11-22291883-C-G
gnomAD v3:
11-22270337-C-G
gnomAD v4:
11-22270337-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22270337C>G , CM000673.2:g.22270337C>G | GRCh38 |
| NC_000011.9:g.22291883C>G , CM000673.1:g.22291883C>G | GRCh37 |
| NC_000011.8:g.22248459C>G | NCBI36 |
| NG_015844.1:g.82162C>G , LRG_868:g.82162C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.1474C>G | ENSP00000507766.1:p.Arg492Gly | |
| ENST00000682341.1:c.1882C>G | ENSP00000508251.1:p.Arg628Gly | |
| ENST00000683197.1:c.1882C>G | ENSP00000507641.1:p.Arg628Gly | |
| ENST00000683411.1:c.1474C>G | ENSP00000508397.1:p.Arg492Gly | |
| ENST00000683437.1:c.1474C>G | ENSP00000508408.1:p.Arg492Gly | |
| ENST00000683613.1:n.2918C>G | ||
| ENST00000684663.1:c.1879C>G | ENSP00000508009.1:p.Arg627Gly | |
| ENST00000324559.9:c.1924C>G MANE Select | ENSP00000315371.9:p.Arg642Gly | |
| ENST00000648804.1:n.2259C>G | ||
| ENST00000324559.8:c.1924C>G | ENSP00000315371.8:p.Arg642Gly | |
| NM_001142649.1:c.1921C>G | NP_001136121.1:p.Arg641Gly | |
| NM_213599.2:c.1924C>G , LRG_868t1:c.1924C>G | NP_998764.1:p.Arg642Gly | |
| XM_005252820.2:c.1882C>G | XP_005252877.2:p.Arg628Gly | |
| XM_005252821.2:c.1879C>G | XP_005252878.2:p.Arg627Gly | |
| XM_005252822.3:c.1846C>G | XP_005252879.1:p.Arg616Gly | |
| XM_005252823.3:c.1843C>G | XP_005252880.1:p.Arg615Gly | |
| XM_011519949.1:c.1831C>G | XP_011518251.1:p.Arg611Gly | |
| XM_005252820.3:c.1882C>G | XP_005252877.2:p.Arg628Gly | |
| XM_005252821.3:c.1879C>G | XP_005252878.2:p.Arg627Gly | |
| XM_005252822.4:c.1846C>G | XP_005252879.1:p.Arg616Gly | |
| XM_011519949.2:c.1831C>G | XP_011518251.1:p.Arg611Gly | |
| NM_001142649.2:c.1921C>G | NP_001136121.1:p.Arg641Gly | |
| NM_213599.3:c.1924C>G MANE Select | NP_998764.1:p.Arg642Gly |