Linked Data
ClinVar Variation Id:
635507
ClinVar RCV Id:
RCV000786973
dbSNP Id:
rs745926869
ExAC:
3:49162514 G / A
gnomAD v2:
3-49162514-G-A
gnomAD v3:
3-49125081-G-A
gnomAD v4:
3-49125081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125081G>A , CM000665.2:g.49125081G>A | GRCh38 |
| NC_000003.11:g.49162514G>A , CM000665.1:g.49162514G>A | GRCh37 |
| NC_000003.10:g.49137518G>A | NCBI36 |
| NG_008094.1:g.13086C>T | |
| NG_054716.1:g.858C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2809C>T MANE Select | ENSP00000307156.4:p.Arg937Trp | |
| ENST00000305544.8:c.2809C>T | ENSP00000307156.4:p.Arg937Trp | |
| ENST00000418109.5:c.2809C>T | ENSP00000388325.1:p.Arg937Trp | |
| ENST00000462930.5:n.216C>T | ||
| ENST00000464891.5:n.542C>T | ||
| ENST00000483057.1:n.409C>T | ||
| ENST00000486298.5:n.514C>T | ||
| ENST00000542580.1:n.124C>T | ||
| NM_002292.3:c.2809C>T | NP_002283.3:p.Arg937Trp | |
| XM_005265127.3:c.2809C>T | XP_005265184.1:p.Arg937Trp | |
| XM_005265127.4:c.2809C>T | XP_005265184.1:p.Arg937Trp | |
| NM_002292.4:c.2809C>T MANE Select | NP_002283.3:p.Arg937Trp |