HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30224994G= , CM000679.2:g.30224994G= | GRCh38 |
NC_000017.10:g.28552012G= , CM000679.1:g.28552012G= | GRCh37 |
NC_000017.9:g.25576138G= | NCBI36 |
NG_011747.2:g.15943C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.-220-2079C= MANE Select | ENSP00000498537.1:n.-220-2079C= | |
ENST00000261707.7:c.-220-2079C= | ENSP00000261707.3:n.-220-2079C= | |
ENST00000394821.2:c.-220-2079C= | ENSP00000378298.2:n.-220-2079C= | |
ENST00000401766.6:c.-123-2913C= | ENSP00000385822.2:n.-123-2913C= | |
NM_001045.5:c.-220-2079C= | NP_001036.1:n.-220-2079C= | |
NM_001045.6:c.-220-2079C= MANE Select | NP_001036.1:n.-220-2079C= |