HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5234174C>A , CM000673.2:g.5234174C>A | GRCh38 |
NC_000011.9:g.5255404C>A , CM000673.1:g.5255404C>A | GRCh37 |
NC_000011.8:g.5211980C>A | NCBI36 |
NG_000007.3:g.63442G>T | |
NG_063112.2:g.14484G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000643122.1:c.132G>T | ENSP00000494708.1:p.Glu44Asp | |
ENST00000650601.1:c.132G>T MANE Select | ENSP00000497529.1:p.Glu44Asp | |
ENST00000292901.7:c.132G>T | ENSP00000292901.3:p.Glu44Asp | |
ENST00000380299.3:c.132G>T | ENSP00000369654.3:p.Glu44Asp | |
ENST00000417377.1:c.92+168G>T | ENSP00000414741.1:n.92+168G>T | |
ENST00000429817.1:c.132G>T | ENSP00000393810.1:p.Glu44Asp | |
NM_000519.3:c.132G>T | NP_000510.1:p.Glu44Asp | |
NM_000519.4:c.132G>T MANE Select | NP_000510.1:p.Glu44Asp |