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