Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46451156G= , CM000682.2:g.46451156G= | GRCh38 |
| NC_000020.10:g.45079795G= , CM000682.1:g.45079795G= | GRCh37 |
| NC_000020.9:g.44513202G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000400371.2:n.1985+4739C= |