HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69647699G>A , CM000673.2:g.69647699G>A | GRCh38 |
NC_000011.9:g.69462467G>A , CM000673.1:g.69462467G>A | GRCh37 |
NC_000011.8:g.69171648G>A | NCBI36 |
NG_007375.1:g.11595G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.575-295G>A MANE Select | ENSP00000227507.2:n.575-295G>A | |
ENST00000227507.2:c.575-295G>A | ENSP00000227507.2:n.575-295G>A | |
ENST00000536559.1:c.199-295G>A | ENSP00000438482.1:n.199-295G>A | |
ENST00000545484.1:n.281-295G>A | ||
NM_053056.2:c.575-295G>A | NP_444284.1:n.575-295G>A | |
XM_006718653.2:c.599-295G>A | XP_006718716.1:n.599-295G>A | |
NM_053056.3:c.575-295G>A MANE Select | NP_444284.1:n.575-295G>A |