Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52803889A= , CM000668.2:g.52803889A= | GRCh38 |
| NC_000006.11:g.52668687A= , CM000668.1:g.52668687A= | GRCh37 |
| NC_000006.10:g.52776646A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001319059.1:c.-281T= | NP_001305988.1:n.-281T= |
| NM_145740.4:c.-135T= | NP_665683.1:n.-135T= |
| ENST00000334575.5:c.-135T= | ENSP00000335620.5:n.-135T= |