Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105766133C>T , CM000676.2:g.105766133C>T | GRCh38 |
| NC_000014.8:g.106232470C>T , CM000676.1:g.106232470C>T | GRCh37 |
| NC_000014.7:g.105303515C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641136.1:c.1257-136G>A |