HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280392G>C , CM000679.2:g.58280392G>C | GRCh38 |
NC_000017.10:g.56357753G>C , CM000679.1:g.56357753G>C | GRCh37 |
NC_000017.9:g.53712752G>C | NCBI36 |
NG_009629.1:g.5544C>G , LRG_84:g.5544C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225275.4:c.222C>G MANE Select | ENSP00000225275.3:p.Asp74Glu | |
ENST00000225275.3:c.222C>G | ENSP00000225275.3:p.Asp74Glu | |
ENST00000580005.1:n.151C>G | ||
NM_000250.1:c.222C>G , LRG_84t1:c.222C>G | NP_000241.1:p.Asp74Glu | |
XM_011524821.1:c.408C>G | XP_011523123.1:p.Asp136Glu | |
XM_011524822.1:c.-38+213C>G | XP_011523124.1:n.-38+213C>G | |
XM_011524823.1:c.408C>G | XP_011523125.1:p.Asp136Glu | |
NM_000250.2:c.222C>G MANE Select | NP_000241.1:p.Asp74Glu |