Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2649489T>C , CM000670.2:g.2649489T>C | GRCh38 |
| NC_000008.10:g.2507006T>C , CM000670.1:g.2507006T>C | GRCh37 |
| NC_000008.9:g.2494413T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125425.1:n.238+25241A>G |