HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80674855C= , CM000667.2:g.80674855C= | GRCh38 |
NC_000005.9:g.79970674C= , CM000667.1:g.79970674C= | GRCh37 |
NC_000005.8:g.80006430C= | NCBI36 |
NG_016607.1:g.25381C= | |
NG_016607.2:g.25381C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265081.7:c.1028-128C= MANE Select | ENSP00000265081.6:n.1028-128C= | |
ENST00000658259.1:c.860-128C= | ENSP00000499617.1:n.860-128C= | |
ENST00000667069.1:c.1028-128C= | ENSP00000499502.1:n.1028-128C= | |
ENST00000670357.1:c.1028-128C= | ENSP00000499791.1:n.1028-128C= | |
ENST00000265081.6:c.1028-128C= | ENSP00000265081.6:n.1028-128C= | |
NM_002439.4:c.1028-128C= | NP_002430.3:n.1028-128C= | |
NM_002439.5:c.1028-128C= MANE Select | NP_002430.3:n.1028-128C= |