Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.19130917C= , CM000675.2:g.19130917C= | GRCh38 |
| NC_000013.10:g.19705057C= , CM000675.1:g.19705057C= | GRCh37 |
| NC_000013.9:g.18603057C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425713.1:n.493-375C= |