Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038458G>A , CM000666.2:g.52038458G>A | GRCh38 |
| NC_000004.11:g.52904624G>A , CM000666.1:g.52904624G>A | GRCh37 |
| NC_000004.10:g.52599381G>A | NCBI36 |
| NG_008891.1:g.4862C>T , LRG_204:g.4862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.9:c.-199C>T | ENSP00000370839.5:n.-199C>T |