Linked Data
ClinVar Variation Id:
294151
dbSNP Id:
rs146532107
ExAC:
1:185976299 C / G
gnomAD v2:
1-185976299-C-G
gnomAD v3:
1-186007167-C-G
gnomAD v4:
1-186007167-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186007167C>G , CM000663.2:g.186007167C>G | GRCh38 |
| NC_000001.10:g.185976299C>G , CM000663.1:g.185976299C>G | GRCh37 |
| NC_000001.9:g.184242922C>G | NCBI36 |
| NG_011841.1:g.277617C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.4515C>G MANE Select | ENSP00000271588.4:p.Asp1505Glu | |
| ENST00000271588.8:c.4515C>G | ENSP00000271588.4:p.Asp1505Glu | |
| NM_031935.2:c.4515C>G | NP_114141.2:p.Asp1505Glu | |
| XM_011510037.1:c.4515C>G | XP_011508339.1:p.Asp1505Glu | |
| XM_011510038.1:c.4515C>G | XP_011508340.1:p.Asp1505Glu | |
| XM_011510039.1:c.4515C>G | XP_011508341.1:p.Asp1505Glu | |
| XM_011510040.1:c.4515C>G | XP_011508342.1:p.Asp1505Glu | |
| XM_011510041.1:c.4515C>G | XP_011508343.1:p.Asp1505Glu | |
| XM_011510038.3:c.4515C>G | XP_011508340.1:p.Asp1505Glu | |
| XM_011510041.3:c.4515C>G | XP_011508343.1:p.Asp1505Glu | |
| XM_017002437.1:c.2538C>G | XP_016857926.1:p.Asp846Glu | |
| XM_024450118.1:c.4515C>G | XP_024305886.1:p.Asp1505Glu | |
| NM_031935.3:c.4515C>G MANE Select | NP_114141.2:p.Asp1505Glu |