HGVS | Genome Assembly |
---|---|
NC_000005.10:g.119452483G>A , CM000667.2:g.119452483G>A | GRCh38 |
NC_000005.9:g.118788178G>A , CM000667.1:g.118788178G>A | GRCh37 |
NC_000005.8:g.118816077G>A | NCBI36 |
NG_008182.1:g.5031G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000509514.6:c.-93G>A | ENSP00000426272.2:n.-93G>A | |
ENST00000682996.1:c.-93G>A | ENSP00000507792.1:n.-93G>A | |
ENST00000683936.1:c.-93G>A | ENSP00000507721.1:n.-93G>A | |
ENST00000684214.1:c.-93G>A | ENSP00000508071.1:n.-93G>A | |
ENST00000256216.10:c.-93G>A | ENSP00000256216.6:n.-93G>A | |
ENST00000511186.5:n.11G>A | ||
NM_000414.3:c.-93G>A | NP_000405.1:n.-93G>A | |
NM_001199292.1:c.-93G>A | NP_001186221.1:n.-93G>A | |
NM_001292027.1:c.-230G>A | NP_001278956.1:n.-230G>A |