HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115522C>A , CM000681.2:g.10115522C>A | GRCh38 |
NC_000019.9:g.10226198C>A , CM000681.1:g.10226198C>A | GRCh37 |
NC_000019.8:g.10087198C>A | NCBI36 |
NG_047007.1:g.9002C>A | |
NG_051197.1:g.9403G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.904G>T MANE Select | ENSP00000253108.3:p.Gly302Cys | |
ENST00000253108.8:c.904G>T | ENSP00000253108.3:p.Gly302Cys | |
ENST00000590158.1:n.923G>T | ||
ENST00000593054.5:c.298G>T | ENSP00000467187.1:p.Gly100Cys | |
NM_003755.3:c.904G>T | NP_003746.2:p.Gly302Cys | |
NM_003755.4:c.904G>T | NP_003746.2:p.Gly302Cys | |
NM_003755.5:c.904G>T MANE Select | NP_003746.2:p.Gly302Cys |