HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863556G>T , CM000672.2:g.87863556G>T | GRCh38 |
NC_000010.10:g.89623313G>T , CM000672.1:g.89623313G>T | GRCh37 |
NC_000010.9:g.89613293G>T | NCBI36 |
NG_007466.2:g.5119G>T , LRG_311:g.5119G>T | |
NG_033079.1:g.4882C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-16-898G>T | ENSP00000516674.1:n.-16-898G>T | |
ENST00000688308.1:c.-17+443G>T | ENSP00000508752.1:n.-17+443G>T | |
ENST00000693560.1:c.-394G>T | ENSP00000509861.1:n.-394G>T | |
ENST00000371953.7:c.-914G>T | ENSP00000361021.3:n.-914G>T | |
ENST00000610634.1:c.-1016G>T | ENSP00000477517.1:n.-1016G>T | |
NM_000314.5:c.-913G>T | NP_000305.3:n.-913G>T | |
NM_000314.6:c.-913G>T | NP_000305.3:n.-913G>T | |
NM_001304717.2:c.-394G>T | NP_001291646.2:n.-394G>T | |
NM_001304718.1:c.-1618G>T | NP_001291647.1:n.-1618G>T |