HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948763C>G , CM000679.2:g.16948763C>G | GRCh38 |
NC_000017.10:g.16852077C>G , CM000679.1:g.16852077C>G | GRCh37 |
NC_000017.9:g.16792802C>G | NCBI36 |
NG_007281.1:g.28326G>C , LRG_120:g.28326G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261652.7:c.420G>C MANE Select | ENSP00000261652.2:p.Glu140Asp | |
ENST00000261652.6:c.420G>C | ENSP00000261652.2:p.Glu140Asp | |
ENST00000579315.5:c.420G>C | ENSP00000464069.1:p.Glu140Asp | |
ENST00000581616.2:n.423G>C | ||
ENST00000582931.5:n.324G>C | ||
ENST00000583789.1:c.282G>C | ENSP00000462952.1:p.Glu94Asp | |
ENST00000584950.5:c.282G>C | ENSP00000463582.1:p.Glu94Asp | |
NM_012452.2:c.420G>C , LRG_120t1:c.420G>C | NP_036584.1:p.Glu140Asp | |
NM_012452.3:c.420G>C MANE Select | NP_036584.1:p.Glu140Asp |