Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042055C>T , CM000674.2:g.56042055C>T | GRCh38 |
| NC_000012.11:g.56435839C>T , CM000674.1:g.56435839C>T | GRCh37 |
| NC_000012.10:g.54722106C>T | NCBI36 |
| NG_023201.1:g.5154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-112C>T | ENSP00000348849.5:n.-112C>T | |
| ENST00000646449.2:c.-112C>T MANE Select | ENSP00000496643.1:n.-112C>T | |
| ENST00000356464.9:c.-112C>T | ENSP00000348849.5:n.-112C>T | |
| ENST00000552361.1:c.-44C>T | ENSP00000450339.1:n.-44C>T | |
| NM_001029.3:c.-112C>T | NP_001020.2:n.-112C>T | |
| NM_001029.5:c.-112C>T MANE Select | NP_001020.2:n.-112C>T |