Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038434C>T , CM000666.2:g.52038434C>T | GRCh38 |
| NC_000004.11:g.52904600C>T , CM000666.1:g.52904600C>T | GRCh37 |
| NC_000004.10:g.52599357C>T | NCBI36 |
| NG_008891.1:g.4886G>A , LRG_204:g.4886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.9:c.-175G>A | ENSP00000370839.5:n.-175G>A |