Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132657651T= , CM000667.2:g.132657651T= | GRCh38 |
| NC_000005.9:g.131993343T= , CM000667.1:g.131993343T= | GRCh37 |
| NC_000005.8:g.132021242T= | NCBI36 |
| NG_012090.1:g.4479T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000459878.5:n.108-639T= | ||
| ENST00000468334.5:n.547+407T= | ||
| ENST00000487267.5:n.274+407T= | ||
| NM_001354991.1:c.-92-639T= | NP_001341920.1:n.-92-639T= | |
| NM_001354992.1:c.-93+407T= | NP_001341921.1:n.-93+407T= | |
| NM_001354993.1:c.-22+407T= | NP_001341922.1:n.-22+407T= | |
| NM_001354991.2:c.-92-639T= | NP_001341920.1:n.-92-639T= | |
| NM_001354992.2:c.-93+407T= | NP_001341921.1:n.-93+407T= | |
| NM_001354993.2:c.-22+407T= | NP_001341922.1:n.-22+407T= |