Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233250046C>A , CM000664.2:g.233250046C>A | GRCh38 |
| NC_000002.11:g.234158692C>A , CM000664.1:g.234158692C>A | GRCh37 |
| NC_000002.10:g.233823431C>A | NCBI36 |
| NG_023038.1:g.3476C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431917.5:c.-137-6056C>A | ENSP00000397512.1:n.-137-6056C>A |