HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132657515A>G , CM000667.2:g.132657515A>G | GRCh38 |
NC_000005.9:g.131993207A>G , CM000667.1:g.131993207A>G | GRCh37 |
NC_000005.8:g.132021106A>G | NCBI36 |
NG_012090.1:g.4343A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000459878.5:n.108-775A>G | ||
ENST00000468334.5:n.547+271A>G | ||
ENST00000487267.5:n.274+271A>G | ||
NM_001354991.1:c.-92-775A>G | NP_001341920.1:n.-92-775A>G | |
NM_001354992.1:c.-93+271A>G | NP_001341921.1:n.-93+271A>G | |
NM_001354993.1:c.-22+271A>G | NP_001341922.1:n.-22+271A>G | |
NM_001354991.2:c.-92-775A>G | NP_001341920.1:n.-92-775A>G | |
NM_001354992.2:c.-93+271A>G | NP_001341921.1:n.-93+271A>G | |
NM_001354993.2:c.-22+271A>G | NP_001341922.1:n.-22+271A>G |