Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132657117C>T , CM000667.2:g.132657117C>T | GRCh38 |
| NC_000005.9:g.131992809C>T , CM000667.1:g.131992809C>T | GRCh37 |
| NC_000005.8:g.132020708C>T | NCBI36 |
| NG_012090.1:g.3945C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001354991.1:c.-93+487C>T | NP_001341920.1:n.-93+487C>T |
| NM_001354991.2:c.-93+487C>T | NP_001341920.1:n.-93+487C>T |
| NM_001354992.1:c.-220C>T | NP_001341921.1:n.-220C>T |
| NM_001354992.2:c.-220C>T | NP_001341921.1:n.-220C>T |
| NM_001354993.1:c.-149C>T | NP_001341922.1:n.-149C>T |
| NM_001354993.2:c.-149C>T | NP_001341922.1:n.-149C>T |
| ENST00000459878.5:n.107+487C>T | |
| ENST00000468334.5:n.420C>T | |
| ENST00000487267.5:n.147C>T |