Linked Data
ClinVar Variation Id:
744842
ClinVar RCV Id:
RCV000921331
dbSNP Id:
rs541523592
ExAC:
20:48807615 G / A
gnomAD v2:
20-48807615-G-A
gnomAD v3:
20-50191078-G-A
gnomAD v4:
20-50191078-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50191078G>A , CM000682.2:g.50191078G>A | GRCh38 |
| NC_000020.10:g.48807615G>A , CM000682.1:g.48807615G>A | GRCh37 |
| NC_000020.9:g.48241022G>A | NCBI36 |
| NG_029019.1:g.5240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303004.5:c.45G>A (CEBPB) MANE Select | ENSP00000305422.3:p.Pro15= | |
| ENST00000303004.4:c.45G>A (CEBPB) | ENSP00000305422.3:p.Pro15= | |
| NM_001285878.1:c.-25G>A (CEBPB) | NP_001272807.1:n.-25G>A | |
| NM_001285879.1:c.-550G>A (CEBPB) | NP_001272808.1:n.-550G>A | |
| NM_005194.3:c.45G>A (CEBPB) | NP_005185.2:p.Pro15= | |
| NR_125739.1:n.561+190C>T (CEBPB-AS1) | ||
| NM_005194.4:c.45G>A (CEBPB) MANE Select | NP_005185.2:p.Pro15= |