Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2649335A>C , CM000670.2:g.2649335A>C | GRCh38 |
| NC_000008.10:g.2506852A>C , CM000670.1:g.2506852A>C | GRCh37 |
| NC_000008.9:g.2494259A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125425.1:n.238+25395T>G |