Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127705994G>C , CM000670.2:g.127705994G>C | GRCh38 |
| NC_000008.10:g.128718239G>C , CM000670.1:g.128718239G>C | GRCh37 |
| NC_000008.9:g.128787421G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_117102.1:n.366-2751C>G |