HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132657049A>G , CM000667.2:g.132657049A>G | GRCh38 |
NC_000005.9:g.131992741A>G , CM000667.1:g.131992741A>G | GRCh37 |
NC_000005.8:g.132020640A>G | NCBI36 |
NG_012090.1:g.3877A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000459878.5:n.107+419A>G | ||
ENST00000468334.5:n.369-17A>G | ||
ENST00000487267.5:n.96-17A>G | ||
NM_001354991.1:c.-93+419A>G | NP_001341920.1:n.-93+419A>G | |
NM_001354992.1:c.-271-17A>G | NP_001341921.1:n.-271-17A>G | |
NM_001354993.1:c.-200-17A>G | NP_001341922.1:n.-200-17A>G | |
NM_001354991.2:c.-93+419A>G | NP_001341920.1:n.-93+419A>G | |
NM_001354992.2:c.-271-17A>G | NP_001341921.1:n.-271-17A>G | |
NM_001354993.2:c.-200-17A>G | NP_001341922.1:n.-200-17A>G |