Linked Data
ClinVar Variation Id:
345996
dbSNP Id:
rs201235061
ExAC:
3:49162513 C / T
gnomAD v2:
3-49162513-C-T
gnomAD v3:
3-49125080-C-T
gnomAD v4:
3-49125080-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125080C>T , CM000665.2:g.49125080C>T | GRCh38 |
| NC_000003.11:g.49162513C>T , CM000665.1:g.49162513C>T | GRCh37 |
| NC_000003.10:g.49137517C>T | NCBI36 |
| NG_008094.1:g.13087G>A | |
| NG_054716.1:g.859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2810G>A MANE Select | ENSP00000307156.4:p.Arg937Gln | |
| ENST00000305544.8:c.2810G>A | ENSP00000307156.4:p.Arg937Gln | |
| ENST00000418109.5:c.2810G>A | ENSP00000388325.1:p.Arg937Gln | |
| ENST00000462930.5:n.217G>A | ||
| ENST00000464891.5:n.543G>A | ||
| ENST00000483057.1:n.410G>A | ||
| ENST00000486298.5:n.515G>A | ||
| ENST00000542580.1:n.125G>A | ||
| NM_002292.3:c.2810G>A | NP_002283.3:p.Arg937Gln | |
| XM_005265127.3:c.2810G>A | XP_005265184.1:p.Arg937Gln | |
| XM_005265127.4:c.2810G>A | XP_005265184.1:p.Arg937Gln | |
| NM_002292.4:c.2810G>A MANE Select | NP_002283.3:p.Arg937Gln |