HGVS | Genome Assembly |
---|---|
NC_000021.9:g.36146320G>C , CM000683.2:g.36146320G>C | GRCh38 |
NC_000021.8:g.37518618G>C , CM000683.1:g.37518618G>C | GRCh37 |
NC_000021.7:g.36440488G>C | NCBI36 |
NG_052818.1:g.16420G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290354.6:c.642G>C (CBR3) MANE Select | ENSP00000290354.5:p.Glu214Asp | |
ENST00000290354.5:c.642G>C (CBR3) | ENSP00000290354.5:p.Glu214Asp | |
NM_001236.3:c.642G>C (CBR3) | NP_001227.1:p.Glu214Asp | |
NR_038892.1:n.128C>G (CBR3-AS1) | ||
NR_038893.1:n.128C>G (CBR3-AS1) | ||
NR_038894.1:n.128C>G (CBR3-AS1) | ||
NM_001236.4:c.642G>C (CBR3) MANE Select | NP_001227.1:p.Glu214Asp |