HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132657549G>A , CM000667.2:g.132657549G>A | GRCh38 |
NC_000005.9:g.131993241G>A , CM000667.1:g.131993241G>A | GRCh37 |
NC_000005.8:g.132021140G>A | NCBI36 |
NG_012090.1:g.4377G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000459878.5:n.108-741G>A | ||
ENST00000468334.5:n.547+305G>A | ||
ENST00000487267.5:n.274+305G>A | ||
NM_001354991.1:c.-92-741G>A | NP_001341920.1:n.-92-741G>A | |
NM_001354992.1:c.-93+305G>A | NP_001341921.1:n.-93+305G>A | |
NM_001354993.1:c.-22+305G>A | NP_001341922.1:n.-22+305G>A | |
NM_001354991.2:c.-92-741G>A | NP_001341920.1:n.-92-741G>A | |
NM_001354992.2:c.-93+305G>A | NP_001341921.1:n.-93+305G>A | |
NM_001354993.2:c.-22+305G>A | NP_001341922.1:n.-22+305G>A |