HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58273538G>C , CM000679.2:g.58273538G>C | GRCh38 |
NC_000017.10:g.56350899G>C , CM000679.1:g.56350899G>C | GRCh37 |
NC_000017.9:g.53705898G>C | NCBI36 |
NG_009629.1:g.12398C>G , LRG_84:g.12398C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000578493.2:n.830C>G | ||
ENST00000699291.1:c.622C>G | ENSP00000514272.1:n.622C>G | |
ENST00000699292.1:n.537C>G | ||
ENST00000225275.4:c.1497C>G MANE Select | ENSP00000225275.3:p.Arg499= | |
ENST00000225275.3:c.1497C>G | ENSP00000225275.3:p.Arg499= | |
NM_000250.1:c.1497C>G , LRG_84t1:c.1497C>G | NP_000241.1:p.Arg499= | |
XM_011524821.1:c.1683C>G | XP_011523123.1:p.Arg561= | |
XM_011524822.1:c.1212C>G | XP_011523124.1:p.Arg404= | |
XM_011524823.1:c.*46C>G | XP_011523125.1:n.*46C>G | |
NM_000250.2:c.1497C>G MANE Select | NP_000241.1:p.Arg499= |