Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36146312C= , CM000683.2:g.36146312C= | GRCh38 |
| NC_000021.8:g.37518610C= , CM000683.1:g.37518610C= | GRCh37 |
| NC_000021.7:g.36440480C= | NCBI36 |
| NG_052818.1:g.16412C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290354.6:c.634C= (CBR3) MANE Select | ENSP00000290354.5:p.Leu212= | |
| ENST00000290354.5:c.634C= (CBR3) | ENSP00000290354.5:p.Leu212= | |
| NM_001236.3:c.634C= (CBR3) | NP_001227.1:p.Leu212= | |
| NR_038892.1:n.136G= (CBR3-AS1) | ||
| NR_038893.1:n.136G= (CBR3-AS1) | ||
| NR_038894.1:n.136G= (CBR3-AS1) | ||
| NM_001236.4:c.634C= (CBR3) MANE Select | NP_001227.1:p.Leu212= |