Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233250007C>T , CM000664.2:g.233250007C>T | GRCh38 |
| NC_000002.11:g.234158653C>T , CM000664.1:g.234158653C>T | GRCh37 |
| NC_000002.10:g.233823392C>T | NCBI36 |
| NG_023038.1:g.3437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431917.5:c.-137-6095C>T | ENSP00000397512.1:n.-137-6095C>T |