HGVS | Genome Assembly |
---|---|
NC_000021.9:g.36140132A>C , CM000683.2:g.36140132A>C | GRCh38 |
NC_000021.8:g.37512430A>C , CM000683.1:g.37512430A>C | GRCh37 |
NC_000021.7:g.36434300A>C | NCBI36 |
NG_052818.1:g.10232A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290354.6:c.397+2200A>C (CBR3) MANE Select | ENSP00000290354.5:n.397+2200A>C | |
ENST00000290354.5:c.397+2200A>C (CBR3) | ENSP00000290354.5:n.397+2200A>C | |
NM_001236.3:c.397+2200A>C (CBR3) | NP_001227.1:n.397+2200A>C | |
NR_038892.1:n.192+6124T>G (CBR3-AS1) | ||
NR_038893.1:n.192+6124T>G (CBR3-AS1) | ||
XM_011529772.1:c.398-1792A>C (CBR3) | XP_011528074.1:n.398-1792A>C | |
XM_011529772.2:c.398-1792A>C (CBR3) | XP_011528074.1:n.398-1792A>C | |
NM_001236.4:c.397+2200A>C (CBR3) MANE Select | NP_001227.1:n.397+2200A>C |