HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112228652G>A , CM000673.2:g.112228652G>A | GRCh38 |
NC_000011.9:g.112099375G>A , CM000673.1:g.112099375G>A | GRCh37 |
NC_000011.8:g.111604585G>A | NCBI36 |
NG_008743.1:g.7288G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000280362.8:c.142G>A MANE Select | ENSP00000280362.3:p.Gly48Ser | |
ENST00000280362.7:c.142G>A | ENSP00000280362.3:p.Gly48Ser | |
ENST00000524931.1:c.-63G>A | ENSP00000434688.1:n.-63G>A | |
ENST00000525645.1:n.217G>A | ||
ENST00000525803.1:c.142G>A | ENSP00000431750.1:p.Gly48Ser | |
ENST00000528679.5:c.142G>A | ENSP00000435895.1:p.Gly48Ser | |
ENST00000531673.5:c.142G>A | ENSP00000433469.1:p.Gly48Ser | |
NM_000317.2:c.142G>A | NP_000308.1:p.Gly48Ser | |
NM_000317.3:c.142G>A MANE Select | NP_000308.1:p.Gly48Ser |