HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78123261A>G , CM000685.2:g.78123261A>G | GRCh38 |
NC_000023.10:g.77378758A>G , CM000685.1:g.77378758A>G | GRCh37 |
NC_000023.9:g.77265414A>G | NCBI36 |
NG_008862.1:g.24093A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.823A>G MANE Select | ENSP00000362413.4:p.Lys275Glu | |
ENST00000644362.1:c.739A>G | ENSP00000496140.1:p.Lys247Glu | |
ENST00000373316.4:c.823A>G | ENSP00000362413.4:p.Lys275Glu | |
ENST00000474281.1:n.230A>G | ||
NM_000291.3:c.823A>G | NP_000282.1:p.Lys275Glu | |
NM_000291.4:c.823A>G MANE Select | NP_000282.1:p.Lys275Glu |