Linked Data
dbSNP Id:
rs187479651
gnomAD v2:
21-37512525-T-G
gnomAD v3:
21-36140227-T-G
gnomAD v4:
21-36140227-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36140227T>G , CM000683.2:g.36140227T>G | GRCh38 |
| NC_000021.8:g.37512525T>G , CM000683.1:g.37512525T>G | GRCh37 |
| NC_000021.7:g.36434395T>G | NCBI36 |
| NG_052818.1:g.10327T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290354.6:c.397+2295T>G (CBR3) MANE Select | ENSP00000290354.5:n.397+2295T>G | |
| ENST00000290354.5:c.397+2295T>G (CBR3) | ENSP00000290354.5:n.397+2295T>G | |
| NM_001236.3:c.397+2295T>G (CBR3) | NP_001227.1:n.397+2295T>G | |
| NR_038892.1:n.192+6029A>C (CBR3-AS1) | ||
| NR_038893.1:n.192+6029A>C (CBR3-AS1) | ||
| XM_011529772.1:c.398-1697T>G (CBR3) | XP_011528074.1:n.398-1697T>G | |
| XM_011529772.2:c.398-1697T>G (CBR3) | XP_011528074.1:n.398-1697T>G | |
| NM_001236.4:c.397+2295T>G (CBR3) MANE Select | NP_001227.1:n.397+2295T>G |