HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863542C>A , CM000672.2:g.87863542C>A | GRCh38 |
NC_000010.10:g.89623299C>A , CM000672.1:g.89623299C>A | GRCh37 |
NC_000010.9:g.89613279C>A | NCBI36 |
NG_007466.2:g.5105C>A , LRG_311:g.5105C>A | |
NG_033079.1:g.4896G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+900C>A | ENSP00000516674.1:n.-17+900C>A | |
ENST00000688308.1:c.-17+429C>A | ENSP00000508752.1:n.-17+429C>A | |
ENST00000693560.1:c.-408C>A | ENSP00000509861.1:n.-408C>A | |
ENST00000371953.7:c.-928C>A | ENSP00000361021.3:n.-928C>A | |
ENST00000610634.1:c.-1030C>A | ENSP00000477517.1:n.-1030C>A | |
NM_000314.5:c.-927C>A | NP_000305.3:n.-927C>A | |
NM_000314.6:c.-927C>A | NP_000305.3:n.-927C>A | |
NM_001304717.2:c.-408C>A | NP_001291646.2:n.-408C>A | |
NM_001304718.1:c.-1632C>A | NP_001291647.1:n.-1632C>A |