Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56076841C>T , CM000674.2:g.56076841C>T | GRCh38 |
| NC_000012.11:g.56470625C>T , CM000674.1:g.56470625C>T | GRCh37 |
| NC_000012.10:g.54756892C>T | NCBI36 |
| NG_011529.1:g.1734C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000643266.1:c.-138C>T | ENSP00000495453.1:n.-138C>T |