HGVS | Genome Assembly |
---|---|
NC_000021.9:g.36146329A>G , CM000683.2:g.36146329A>G | GRCh38 |
NC_000021.8:g.37518627A>G , CM000683.1:g.37518627A>G | GRCh37 |
NC_000021.7:g.36440497A>G | NCBI36 |
NG_052818.1:g.16429A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290354.6:c.651A>G (CBR3) MANE Select | ENSP00000290354.5:p.Lys217= | |
ENST00000290354.5:c.651A>G (CBR3) | ENSP00000290354.5:p.Lys217= | |
NM_001236.3:c.651A>G (CBR3) | NP_001227.1:p.Lys217= | |
NR_038892.1:n.119T>C (CBR3-AS1) | ||
NR_038893.1:n.119T>C (CBR3-AS1) | ||
NR_038894.1:n.119T>C (CBR3-AS1) | ||
NM_001236.4:c.651A>G (CBR3) MANE Select | NP_001227.1:p.Lys217= |