Linked Data
ClinVar Variation Id:
2742750
ClinVar RCV Id:
RCV003535488
dbSNP Id:
rs587731307
gnomAD v3:
3-50345492-C-A
gnomAD v4:
3-50345492-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345492C>A , CM000665.2:g.50345492C>A | GRCh38 |
| NC_000003.11:g.50382923C>A , CM000665.1:g.50382923C>A | GRCh37 |
| NC_000003.10:g.50357927C>A | NCBI36 |
| NG_023270.1:g.445G>T | |
| NG_042828.1:g.5255G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.88G>T MANE Select | ENSP00000231749.3:p.Glu30Ter | |
| ENST00000231749.7:c.88G>T | ENSP00000231749.3:p.Glu30Ter | |
| ENST00000360165.7:c.88G>T | ENSP00000353289.3:p.Glu30Ter | |
| ENST00000431869.1:c.88G>T | ENSP00000391545.1:p.Glu30Ter | |
| ENST00000442887.1:c.-38+43G>T | ENSP00000393687.1:n.-38+43G>T | |
| ENST00000443080.5:c.88G>T | ENSP00000415661.1:p.Glu30Ter | |
| ENST00000468182.1:n.190G>T | ||
| NM_001308379.1:c.88G>T | NP_001295308.1:p.Glu30Ter | |
| NM_015896.2:c.88G>T | NP_056980.2:p.Glu30Ter | |
| NM_015896.3:c.88G>T | NP_056980.2:p.Glu30Ter | |
| XM_005265216.2:c.-41G>T | XP_005265273.1:n.-41G>T | |
| XM_005265216.3:c.-41G>T | XP_005265273.1:n.-41G>T | |
| NM_015896.4:c.88G>T MANE Select | NP_056980.2:p.Glu30Ter | |
| NM_001308379.2:c.88G>T | NP_001295308.1:p.Glu30Ter |