HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45645147C>A , CM000667.2:g.45645147C>A | GRCh38 |
NC_000005.9:g.45645249C>A , CM000667.1:g.45645249C>A | GRCh37 |
NC_000005.8:g.45681006C>A | NCBI36 |
NG_042183.1:g.55972G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.849+38G>T MANE Select | ENSP00000307342.4:n.849+38G>T | |
ENST00000637256.1:n.77+38G>T | ||
ENST00000673735.1:c.849+38G>T | ENSP00000501107.1:n.849+38G>T | |
ENST00000303230.5:c.849+38G>T | ENSP00000307342.4:n.849+38G>T | |
ENST00000634658.1:c.887G>T | ENSP00000489134.1:p.Ter296Leu | |
NM_021072.3:c.849+38G>T | NP_066550.2:n.849+38G>T | |
NM_021072.4:c.849+38G>T MANE Select | NP_066550.2:n.849+38G>T |