HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30224545C= , CM000679.2:g.30224545C= | GRCh38 |
NC_000017.10:g.28551563C= , CM000679.1:g.28551563C= | GRCh37 |
NC_000017.9:g.25575689C= | NCBI36 |
NG_011747.2:g.16392G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.-220-1630G= MANE Select | ENSP00000498537.1:n.-220-1630G= | |
ENST00000261707.7:c.-220-1630G= | ENSP00000261707.3:n.-220-1630G= | |
ENST00000394821.2:c.-220-1630G= | ENSP00000378298.2:n.-220-1630G= | |
ENST00000401766.6:c.-123-2464G= | ENSP00000385822.2:n.-123-2464G= | |
NM_001045.5:c.-220-1630G= | NP_001036.1:n.-220-1630G= | |
NM_001045.6:c.-220-1630G= MANE Select | NP_001036.1:n.-220-1630G= |