HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80675123A= , CM000667.2:g.80675123A= | GRCh38 |
NC_000005.9:g.79970942A= , CM000667.1:g.79970942A= | GRCh37 |
NC_000005.8:g.80006698A= | NCBI36 |
NG_016607.1:g.25649A= | |
NG_016607.2:g.25649A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265081.7:c.1168A= MANE Select | ENSP00000265081.6:p.Ile390= | |
ENST00000658259.1:c.1000A= | ENSP00000499617.1:p.Ile334= | |
ENST00000667069.1:c.1168A= | ENSP00000499502.1:p.Ile390= | |
ENST00000670357.1:c.1168A= | ENSP00000499791.1:p.Ile390= | |
ENST00000265081.6:c.1168A= | ENSP00000265081.6:p.Ile390= | |
NM_002439.4:c.1168A= | NP_002430.3:p.Ile390= | |
NM_002439.5:c.1168A= MANE Select | NP_002430.3:p.Ile390= |