HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115521C>T , CM000681.2:g.10115521C>T | GRCh38 |
NC_000019.9:g.10226197C>T , CM000681.1:g.10226197C>T | GRCh37 |
NC_000019.8:g.10087197C>T | NCBI36 |
NG_047007.1:g.9001C>T | |
NG_051197.1:g.9404G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.905G>A MANE Select | ENSP00000253108.3:p.Gly302Asp | |
ENST00000253108.8:c.905G>A | ENSP00000253108.3:p.Gly302Asp | |
ENST00000590158.1:n.924G>A | ||
ENST00000593054.5:c.299G>A | ENSP00000467187.1:p.Gly100Asp | |
NM_003755.3:c.905G>A | NP_003746.2:p.Gly302Asp | |
NM_003755.4:c.905G>A | NP_003746.2:p.Gly302Asp | |
NM_003755.5:c.905G>A MANE Select | NP_003746.2:p.Gly302Asp |