HGVS | Genome Assembly |
---|---|
NC_000008.11:g.1425554G>A , CM000670.2:g.1425554G>A | GRCh38 |
NC_000008.10:g.1373720G>A , CM000670.1:g.1373720G>A | GRCh37 |
NC_000008.9:g.1361127G>A | NCBI36 |
NG_009409.2:g.692836G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000421627.7:c.104-75812G>A | ENSP00000400258.3:n.104-75812G>A | |
ENST00000637795.2:c.107-75812G>A MANE Select | ENSP00000489774.1:n.107-75812G>A | |
XM_011534761.1:c.-134-75812G>A | XP_011533063.1:n.-134-75812G>A | |
XM_011534762.1:c.-134-75812G>A | XP_011533064.1:n.-134-75812G>A | |
NM_001346810.1:c.107-75812G>A | NP_001333739.1:n.107-75812G>A | |
NM_001346810.2:c.107-75812G>A MANE Select | NP_001333739.1:n.107-75812G>A |