Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56447825C= , CM000670.2:g.56447825C= | GRCh38 |
| NC_000008.10:g.57360384C= , CM000670.1:g.57360384C= | GRCh37 |
| NC_000008.9:g.57522938C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125813.1:n.694+1325C= |