Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132657616C>T , CM000667.2:g.132657616C>T | GRCh38 |
| NC_000005.9:g.131993308C>T , CM000667.1:g.131993308C>T | GRCh37 |
| NC_000005.8:g.132021207C>T | NCBI36 |
| NG_012090.1:g.4444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000459878.5:n.108-674C>T | ||
| ENST00000468334.5:n.547+372C>T | ||
| ENST00000487267.5:n.274+372C>T | ||
| NM_001354991.1:c.-92-674C>T | NP_001341920.1:n.-92-674C>T | |
| NM_001354992.1:c.-93+372C>T | NP_001341921.1:n.-93+372C>T | |
| NM_001354993.1:c.-22+372C>T | NP_001341922.1:n.-22+372C>T | |
| NM_001354991.2:c.-92-674C>T | NP_001341920.1:n.-92-674C>T | |
| NM_001354992.2:c.-93+372C>T | NP_001341921.1:n.-93+372C>T | |
| NM_001354993.2:c.-22+372C>T | NP_001341922.1:n.-22+372C>T |