Linked Data
ClinVar Variation Id:
1260386
ClinVar RCV Id:
RCV001659664
dbSNP Id:
rs10882283
gnomAD v2:
10-95360964-A-C
gnomAD v3:
10-93601207-A-C
gnomAD v4:
10-93601207-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93601207A>C , CM000672.2:g.93601207A>C | GRCh38 |
| NC_000010.10:g.95360964A>C , CM000672.1:g.95360964A>C | GRCh37 |
| NC_000010.9:g.95350954A>C | NCBI36 |
| NG_009104.1:g.5030T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371464.8:c.-55T>G (RBP4) MANE Select | ENSP00000360519.3:n.-55T>G | |
| ENST00000371464.7:c.-55T>G (RBP4) | ENSP00000360519.3:n.-55T>G | |
| ENST00000371467.5:c.-19+155T>G (RBP4) | ENSP00000360522.1:n.-19+155T>G | |
| ENST00000371469.2:c.52-236T>G (RBP4) | ENSP00000360524.2:n.52-236T>G | |
| ENST00000604414.1:c.697-2867A>C (FFAR4) | ENSP00000474477.1:n.697-2867A>C | |
| ENST00000629763.2:c.48-232T>G (RBP4) | ENSP00000487033.1:n.48-232T>G | |
| NM_006744.3:c.-55T>G (RBP4) | NP_006735.2:n.-55T>G | |
| NM_001323517.1:c.-19+155T>G (RBP4) | NP_001310446.1:n.-19+155T>G | |
| NM_001323518.1:c.52-236T>G (RBP4) | NP_001310447.1:n.52-236T>G | |
| NM_006744.4:c.-55T>G (RBP4) MANE Select | NP_006735.2:n.-55T>G | |
| NM_001323518.2:c.52-236T>G (RBP4) | NP_001310447.1:n.52-236T>G |