HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69647967C>G , CM000673.2:g.69647967C>G | GRCh38 |
NC_000011.9:g.69462735C>G , CM000673.1:g.69462735C>G | GRCh37 |
NC_000011.8:g.69171916C>G | NCBI36 |
NG_007375.1:g.11863C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.575-27C>G MANE Select | ENSP00000227507.2:n.575-27C>G | |
ENST00000227507.2:c.575-27C>G | ENSP00000227507.2:n.575-27C>G | |
ENST00000536559.1:c.199-27C>G | ENSP00000438482.1:n.199-27C>G | |
ENST00000542367.1:n.11C>G | ||
ENST00000545484.1:n.281-27C>G | ||
NM_053056.2:c.575-27C>G | NP_444284.1:n.575-27C>G | |
XM_006718653.2:c.599-27C>G | XP_006718716.1:n.599-27C>G | |
NM_053056.3:c.575-27C>G MANE Select | NP_444284.1:n.575-27C>G |