Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038309T>A , CM000666.2:g.52038309T>A | GRCh38 |
| NC_000004.11:g.52904475T>A , CM000666.1:g.52904475T>A | GRCh37 |
| NC_000004.10:g.52599232T>A | NCBI36 |
| NG_008891.1:g.5011A>T , LRG_204:g.5011A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.9:c.-50A>T | ENSP00000370839.5:n.-50A>T | |
| NM_000232.4:c.-50A>T , LRG_204t1:c.-50A>T | NP_000223.1:n.-50A>T |