HGVS | Genome Assembly |
---|---|
NC_000005.10:g.79314351A>G , CM000667.2:g.79314351A>G | GRCh38 |
NC_000005.9:g.78610174A>G , CM000667.1:g.78610174A>G | GRCh37 |
NC_000005.8:g.78645930A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000396137.5:c.2159A>G MANE Select | ENSP00000379441.4:p.His720Arg | |
ENST00000396137.4:c.2159A>G | ENSP00000379441.4:p.His720Arg | |
ENST00000412001.1:n.77-10514A>G | ||
NM_152405.4:c.2159A>G | NP_689618.4:p.His720Arg | |
XM_005248430.1:c.2065-29A>G | XP_005248487.1:n.2065-29A>G | |
XM_011543155.1:c.2063A>G | XP_011541457.1:p.His688Arg | |
XM_005248430.3:c.2065-29A>G | XP_005248487.1:n.2065-29A>G | |
XM_011543155.3:c.2063A>G | XP_011541457.1:p.His688Arg | |
NM_152405.5:c.2159A>G MANE Select | NP_689618.4:p.His720Arg |