Linked Data
dbSNP Id:
rs1320405026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36146312C>G , CM000683.2:g.36146312C>G | GRCh38 |
| NC_000021.8:g.37518610C>G , CM000683.1:g.37518610C>G | GRCh37 |
| NC_000021.7:g.36440480C>G | NCBI36 |
| NG_052818.1:g.16412C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290354.6:c.634C>G (CBR3) MANE Select | ENSP00000290354.5:p.Leu212Val | |
| ENST00000290354.5:c.634C>G (CBR3) | ENSP00000290354.5:p.Leu212Val | |
| NM_001236.3:c.634C>G (CBR3) | NP_001227.1:p.Leu212Val | |
| NR_038892.1:n.136G>C (CBR3-AS1) | ||
| NR_038893.1:n.136G>C (CBR3-AS1) | ||
| NR_038894.1:n.136G>C (CBR3-AS1) | ||
| NM_001236.4:c.634C>G (CBR3) MANE Select | NP_001227.1:p.Leu212Val |