HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133538780G>A , CM000672.2:g.133538780G>A | GRCh38 |
NC_000010.10:g.135352284G>A , CM000672.1:g.135352284G>A | GRCh37 |
NC_000010.9:g.135202274G>A | NCBI36 |
NG_008383.1:g.16418G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.1298G>A MANE Select | ENSP00000252945.3:p.Gly433Glu | |
ENST00000252945.7:c.1298G>A | ENSP00000252945.3:p.Gly433Glu | |
ENST00000368520.1:n.1358+888G>A | ||
ENST00000418356.1:c.887G>A | ENSP00000397299.1:p.Gly296Glu | |
ENST00000421586.5:c.1037G>A | ENSP00000412754.1:p.Gly346Glu | |
ENST00000463117.6:c.1298G>A | ENSP00000440689.1:p.Gly433Glu | |
ENST00000469258.1:n.394G>A | ||
ENST00000541080.5:c.714G>A | ||
NM_000773.3:c.1298G>A | NP_000764.1:p.Gly433Glu | |
NM_000773.4:c.1298G>A MANE Select | NP_000764.1:p.Gly433Glu |