HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863546C= , CM000672.2:g.87863546C= | GRCh38 |
NC_000010.10:g.89623303C= , CM000672.1:g.89623303C= | GRCh37 |
NC_000010.9:g.89613283C= | NCBI36 |
NG_007466.2:g.5109C= , LRG_311:g.5109C= | |
NG_033079.1:g.4892G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+904C= | ENSP00000516674.1:n.-17+904C= | |
ENST00000688308.1:c.-17+433C= | ENSP00000508752.1:n.-17+433C= | |
ENST00000693560.1:c.-404C= | ENSP00000509861.1:n.-404C= | |
ENST00000371953.7:c.-924C= | ENSP00000361021.3:n.-924C= | |
ENST00000610634.1:c.-1026C= | ENSP00000477517.1:n.-1026C= | |
NM_000314.5:c.-923C= | NP_000305.3:n.-923C= | |
NM_000314.6:c.-923C= | NP_000305.3:n.-923C= | |
NM_001304717.2:c.-404C= | NP_001291646.2:n.-404C= | |
NM_001304718.1:c.-1628C= | NP_001291647.1:n.-1628C= |