HGVS | Genome Assembly |
---|---|
NC_000005.10:g.71719492C>A , CM000667.2:g.71719492C>A | GRCh38 |
NC_000005.9:g.71015319C>A , CM000667.1:g.71015319C>A | GRCh37 |
NC_000005.8:g.71051075C>A | NCBI36 |
NG_015988.1:g.5330C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296777.5:c.159+40C>A MANE Select | ENSP00000296777.4:n.159+40C>A | |
ENST00000296777.4:c.159+40C>A | ENSP00000296777.4:n.159+40C>A | |
NM_004291.3:c.159+40C>A | NP_004282.1:n.159+40C>A | |
NM_004291.4:c.159+40C>A MANE Select | NP_004282.1:n.159+40C>A |