Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223072020C>A , CM000664.2:g.223072020C>A | GRCh38 |
| NC_000002.11:g.223936738C>A , CM000664.1:g.223936738C>A | GRCh37 |
| NC_000002.10:g.223644982C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000488477.2:n.189+11317C>A |