Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95595157C>A , CM000672.2:g.95595157C>A | GRCh38 |
| NC_000010.10:g.97354914C>A , CM000672.1:g.97354914C>A | GRCh37 |
| NC_000010.9:g.97344904C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398190.2:n.560C>A |