gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32504542 (SAS)
Genomes Max Group AF
0.32504542 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93593555A>G , CM000672.2:g.93593555A>G | GRCh38 |
| NC_000010.10:g.95353312A>G , CM000672.1:g.95353312A>G | GRCh37 |
| NC_000010.9:g.95343302A>G | NCBI36 |
| NG_009104.1:g.12682T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371464.8:c.568+268T>C (RBP4) MANE Select | ENSP00000360519.3:n.568+268T>C | |
| ENST00000371464.7:c.568+268T>C (RBP4) | ENSP00000360519.3:n.568+268T>C | |
| ENST00000371467.5:c.568+268T>C (RBP4) | ENSP00000360522.1:n.568+268T>C | |
| ENST00000371469.2:c.562+268T>C (RBP4) | ENSP00000360524.2:n.562+268T>C | |
| ENST00000604414.1:c.697-10519A>G (FFAR4) | ENSP00000474477.1:n.697-10519A>G | |
| ENST00000615669.4:c.562+268T>C (RBP4) | ENSP00000480654.1:n.562+268T>C | |
| ENST00000629763.2:c.562+268T>C (RBP4) | ENSP00000487033.1:n.562+268T>C | |
| NM_006744.3:c.568+268T>C (RBP4) | NP_006735.2:n.568+268T>C | |
| NM_001323517.1:c.568+268T>C (RBP4) | NP_001310446.1:n.568+268T>C | |
| NM_001323518.1:c.562+268T>C (RBP4) | NP_001310447.1:n.562+268T>C | |
| NM_006744.4:c.568+268T>C (RBP4) MANE Select | NP_006735.2:n.568+268T>C | |
| NM_001323518.2:c.562+268T>C (RBP4) | NP_001310447.1:n.562+268T>C |