Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.53555341C>T , CM000664.2:g.53555341C>T | GRCh38 |
| NC_000002.11:g.53782478C>T , CM000664.1:g.53782478C>T | GRCh37 |
| NC_000002.10:g.53635982C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406053.5:c.1436-21457G>A |