Linked Data
ClinVar Variation Id:
253097
ClinVar RCV Id:
RCV000239518
dbSNP Id:
rs754080445
ExAC:
22:19486647 A / G
gnomAD v2:
22-19486647-A-G
gnomAD v4:
22-19499124-A-G
PubMed:
PMID:27374770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19499124A>G , CM000684.2:g.19499124A>G | GRCh38 |
| NC_000022.10:g.19486647A>G , CM000684.1:g.19486647A>G | GRCh37 |
| NC_000022.9:g.17866647A>G | NCBI36 |
| NG_052958.1:g.24299A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263201.7:c.677A>G MANE Select | ENSP00000263201.2:p.Asp226Gly | |
| ENST00000407835.6:c.173A>G | ENSP00000385240.2:p.Asp58Gly | |
| ENST00000438587.6:c.*549A>G | ENSP00000397434.2:n.*549A>G | |
| ENST00000672837.1:c.539A>G | ENSP00000499976.1:p.Asp180Gly | |
| ENST00000263201.5:c.677A>G | ENSP00000263201.1:p.Asp226Gly | |
| ENST00000404724.7:c.539A>G | ENSP00000384978.3:p.Asp180Gly | |
| ENST00000407835.5:c.677A>G | ENSP00000385240.1:p.Asp226Gly | |
| ENST00000428937.1:c.541A>G | ||
| ENST00000437685.6:c.773A>G | ENSP00000405726.2:p.Asp258Gly | |
| NM_001178010.2:c.773A>G | NP_001171481.1:p.Asp258Gly | |
| NM_001178011.2:c.539A>G | NP_001171482.1:p.Asp180Gly | |
| NM_003504.4:c.677A>G | NP_003495.1:p.Asp226Gly | |
| XM_005261285.2:c.773A>G | XP_005261342.1:p.Asp258Gly | |
| XM_005261286.3:c.677A>G | XP_005261343.1:p.Asp226Gly | |
| XM_011530415.1:c.677A>G | XP_011528717.1:p.Asp226Gly | |
| XM_011530416.1:c.641A>G | XP_011528718.1:p.Asp214Gly | |
| XM_011530417.1:c.539A>G | XP_011528719.1:p.Asp180Gly | |
| XM_011530418.1:c.539A>G | XP_011528720.1:p.Asp180Gly | |
| XM_011530419.1:c.167A>G | XP_011528721.1:p.Asp56Gly | |
| XR_937930.1:n.913A>G | ||
| XM_011530417.3:c.539A>G | XP_011528719.1:p.Asp180Gly | |
| XM_011530418.3:c.539A>G | XP_011528720.1:p.Asp180Gly | |
| XM_017028966.1:c.167A>G | XP_016884455.1:p.Asp56Gly | |
| XM_017028967.1:c.-2+1677A>G | XP_016884456.1:n.-2+1677A>G | |
| XM_024452277.1:c.677A>G | XP_024308045.1:p.Asp226Gly | |
| XM_024452278.1:c.641A>G | XP_024308046.1:p.Asp214Gly | |
| XR_002958715.1:n.755A>G | ||
| XR_002958716.1:n.960A>G | ||
| NM_001369291.1:c.641A>G | NP_001356220.1:p.Asp214Gly | |
| NM_003504.5:c.677A>G MANE Select | NP_003495.1:p.Asp226Gly | |
| NR_161281.1:n.726A>G |