HGVS | Genome Assembly |
---|---|
NC_000016.10:g.22877798C>A , CM000678.2:g.22877798C>A | GRCh38 |
NC_000016.9:g.22889119C>A , CM000678.1:g.22889119C>A | GRCh37 |
NC_000016.8:g.22796620C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261374.4:c.486-37146C>A MANE Select | ENSP00000261374.3:n.486-37146C>A | |
ENST00000261374.3:c.486-37146C>A | ENSP00000261374.3:n.486-37146C>A | |
ENST00000473392.1:c.*287+23017C>A | ENSP00000454505.1:n.*287+23017C>A | |
NM_006043.1:c.486-37146C>A | NP_006034.1:n.486-37146C>A | |
NM_006043.2:c.486-37146C>A MANE Select | NP_006034.1:n.486-37146C>A |