HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30225090C= , CM000679.2:g.30225090C= | GRCh38 |
NC_000017.10:g.28552108C= , CM000679.1:g.28552108C= | GRCh37 |
NC_000017.9:g.25576234C= | NCBI36 |
NG_011747.2:g.15847G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.-220-2175G= MANE Select | ENSP00000498537.1:n.-220-2175G= | |
ENST00000261707.7:c.-220-2175G= | ENSP00000261707.3:n.-220-2175G= | |
ENST00000394821.2:c.-220-2175G= | ENSP00000378298.2:n.-220-2175G= | |
ENST00000401766.6:c.-123-3009G= | ENSP00000385822.2:n.-123-3009G= | |
NM_001045.5:c.-220-2175G= | NP_001036.1:n.-220-2175G= | |
NM_001045.6:c.-220-2175G= MANE Select | NP_001036.1:n.-220-2175G= |