Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15848390G= , CM000681.2:g.15848390G= | GRCh38 |
| NC_000019.9:g.15959200G= , CM000681.1:g.15959200G= | GRCh37 |
| NC_000019.8:g.15820200G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000692445.1:n.202-2027C= |