HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863536G= , CM000672.2:g.87863536G= | GRCh38 |
NC_000010.10:g.89623293G= , CM000672.1:g.89623293G= | GRCh37 |
NC_000010.9:g.89613273G= | NCBI36 |
NG_007466.2:g.5099G= , LRG_311:g.5099G= | |
NG_033079.1:g.4902C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000706954.1:c.-17+894G= | ENSP00000516674.1:n.-17+894G= | |
ENST00000688308.1:c.-17+423G= | ENSP00000508752.1:n.-17+423G= | |
ENST00000693560.1:c.-414G= | ENSP00000509861.1:n.-414G= | |
ENST00000371953.7:c.-934G= | ENSP00000361021.3:n.-934G= | |
ENST00000610634.1:c.-1036G= | ENSP00000477517.1:n.-1036G= | |
NM_000314.5:c.-933G= | NP_000305.3:n.-933G= | |
NM_000314.6:c.-933G= | NP_000305.3:n.-933G= | |
NM_001304717.2:c.-414G= | NP_001291646.2:n.-414G= | |
NM_001304718.1:c.-1638G= | NP_001291647.1:n.-1638G= |