Linked Data
ClinVar Variation Id:
1015755
ClinVar RCV Id:
RCV001314664
dbSNP Id:
rs190191113
ExAC:
3:49162550 G / A
gnomAD v2:
3-49162550-G-A
gnomAD v3:
3-49125117-G-A
gnomAD v4:
3-49125117-G-A
COSMIC:
COSM225171
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125117G>A , CM000665.2:g.49125117G>A | GRCh38 |
| NC_000003.11:g.49162550G>A , CM000665.1:g.49162550G>A | GRCh37 |
| NC_000003.10:g.49137554G>A | NCBI36 |
| NG_008094.1:g.13050C>T | |
| NG_054716.1:g.822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2773C>T MANE Select | ENSP00000307156.4:p.Arg925Trp | |
| ENST00000305544.8:c.2773C>T | ENSP00000307156.4:p.Arg925Trp | |
| ENST00000418109.5:c.2773C>T | ENSP00000388325.1:p.Arg925Trp | |
| ENST00000462930.5:n.180C>T | ||
| ENST00000464891.5:n.506C>T | ||
| ENST00000483057.1:n.373C>T | ||
| ENST00000486298.5:n.478C>T | ||
| ENST00000542580.1:n.88C>T | ||
| NM_002292.3:c.2773C>T | NP_002283.3:p.Arg925Trp | |
| XM_005265127.3:c.2773C>T | XP_005265184.1:p.Arg925Trp | |
| XM_005265127.4:c.2773C>T | XP_005265184.1:p.Arg925Trp | |
| NM_002292.4:c.2773C>T MANE Select | NP_002283.3:p.Arg925Trp |