HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659499T= , CM000665.2:g.180659499T= | GRCh38 |
NC_000003.11:g.180377287T= , CM000665.1:g.180377287T= | GRCh37 |
NC_000003.10:g.181859981T= | NCBI36 |
NG_029581.1:g.24997A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.691A= MANE Select | ENSP00000417960.2:p.Ile231= | |
ENST00000650641.1:n.770A= | ||
ENST00000650889.1:n.863A= | ||
ENST00000651046.1:c.691A= | ENSP00000499175.1:p.Ile231= | |
ENST00000651818.1:n.833A= | ||
ENST00000652024.1:n.782A= | ||
ENST00000652408.1:n.828A= | ||
ENST00000442201.6:c.691A= | ENSP00000405708.2:p.Ile231= | |
ENST00000476379.5:c.691A= | ENSP00000417960.1:p.Ile231= | |
NM_181426.1:c.691A= | NP_852091.1:p.Ile231= | |
NM_181426.2:c.691A= MANE Select | NP_852091.1:p.Ile231= |