HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132657530A>T , CM000667.2:g.132657530A>T | GRCh38 |
NC_000005.9:g.131993222A>T , CM000667.1:g.131993222A>T | GRCh37 |
NC_000005.8:g.132021121A>T | NCBI36 |
NG_012090.1:g.4358A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000459878.5:n.108-760A>T | ||
ENST00000468334.5:n.547+286A>T | ||
ENST00000487267.5:n.274+286A>T | ||
NM_001354991.1:c.-92-760A>T | NP_001341920.1:n.-92-760A>T | |
NM_001354992.1:c.-93+286A>T | NP_001341921.1:n.-93+286A>T | |
NM_001354993.1:c.-22+286A>T | NP_001341922.1:n.-22+286A>T | |
NM_001354991.2:c.-92-760A>T | NP_001341920.1:n.-92-760A>T | |
NM_001354992.2:c.-93+286A>T | NP_001341921.1:n.-93+286A>T | |
NM_001354993.2:c.-22+286A>T | NP_001341922.1:n.-22+286A>T |