Linked Data
ClinVar Variation Id:
714831
ClinVar RCV Id:
RCV000887205
dbSNP Id:
rs2230191
ExAC:
21:37444937 G / A
gnomAD v2:
21-37444937-G-A
gnomAD v3:
21-36072639-G-A
gnomAD v4:
21-36072639-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36072639G>A , CM000683.2:g.36072639G>A | GRCh38 |
| NC_000021.8:g.37444937G>A , CM000683.1:g.37444937G>A | GRCh37 |
| NC_000021.7:g.36366807G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290349.11:c.591G>A (CBR1) MANE Select | ENSP00000290349.6:p.Thr197= | |
| ENST00000290349.10:c.591G>A (CBR1) | ENSP00000290349.6:p.Thr197= | |
| ENST00000399201.5:c.-203+6666C>T (SETD4) | ENSP00000382152.1:n.-203+6666C>T | |
| ENST00000530908.5:c.*700G>A (CBR1) | ENSP00000434613.1:n.*700G>A | |
| NM_001286789.1:c.*700G>A (CBR1) | NP_001273718.1:n.*700G>A | |
| NM_001757.3:c.591G>A (CBR1) | NP_001748.1:p.Thr197= | |
| NR_040084.1:n.378-2154C>T (CBR1-AS1) | ||
| NM_001757.4:c.591G>A (CBR1) MANE Select | NP_001748.1:p.Thr197= | |
| NM_001286789.2:c.*700G>A (CBR1) | NP_001273718.1:n.*700G>A |