HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132657593T>C , CM000667.2:g.132657593T>C | GRCh38 |
NC_000005.9:g.131993285T>C , CM000667.1:g.131993285T>C | GRCh37 |
NC_000005.8:g.132021184T>C | NCBI36 |
NG_012090.1:g.4421T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000459878.5:n.108-697T>C | ||
ENST00000468334.5:n.547+349T>C | ||
ENST00000487267.5:n.274+349T>C | ||
NM_001354991.1:c.-92-697T>C | NP_001341920.1:n.-92-697T>C | |
NM_001354992.1:c.-93+349T>C | NP_001341921.1:n.-93+349T>C | |
NM_001354993.1:c.-22+349T>C | NP_001341922.1:n.-22+349T>C | |
NM_001354991.2:c.-92-697T>C | NP_001341920.1:n.-92-697T>C | |
NM_001354992.2:c.-93+349T>C | NP_001341921.1:n.-93+349T>C | |
NM_001354993.2:c.-22+349T>C | NP_001341922.1:n.-22+349T>C |