HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47004260C>A , CM000681.2:g.47004260C>A | GRCh38 |
NC_000019.9:g.47507517C>A , CM000681.1:g.47507517C>A | GRCh37 |
NC_000019.8:g.52199357C>A | NCBI36 |
NG_047014.1:g.90694C>A | |
NG_047014.2:g.148264C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.8072C>A | ENSP00000385720.2:n.8072C>A | |
ENST00000672722.1:c.*3572C>A MANE Select | ENSP00000500409.1:n.*3572C>A | |
ENST00000404338.7:c.8072C>A | ENSP00000385720.2:n.8072C>A | |
ENST00000614079.1:c.7649C>A | ENSP00000483730.1:n.7649C>A | |
NM_004491.4:c.8072C>A | NP_004482.4:n.8072C>A | |
NM_004491.5:c.*3572C>A MANE Select | NP_004482.4:n.*3572C>A |