HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280368T>G , CM000679.2:g.58280368T>G | GRCh38 |
NC_000017.10:g.56357729T>G , CM000679.1:g.56357729T>G | GRCh37 |
NC_000017.9:g.53712728T>G | NCBI36 |
NG_009629.1:g.5568A>C , LRG_84:g.5568A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225275.4:c.246A>C MANE Select | ENSP00000225275.3:p.Glu82Asp | |
ENST00000225275.3:c.246A>C | ENSP00000225275.3:p.Glu82Asp | |
ENST00000580005.1:n.175A>C | ||
NM_000250.1:c.246A>C , LRG_84t1:c.246A>C | NP_000241.1:p.Glu82Asp | |
XM_011524821.1:c.432A>C | XP_011523123.1:p.Glu144Asp | |
XM_011524822.1:c.-38+237A>C | XP_011523124.1:n.-38+237A>C | |
XM_011524823.1:c.432A>C | XP_011523125.1:p.Glu144Asp | |
NM_000250.2:c.246A>C MANE Select | NP_000241.1:p.Glu82Asp |