Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47254502A>G , CM000664.2:g.47254502A>G | GRCh38 |
| NC_000002.11:g.47481641A>G , CM000664.1:g.47481641A>G | GRCh37 |
| NC_000002.10:g.47335145A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110207.1:n.175-33179T>C | |
| NR_110208.1:n.404-54959T>C | |
| XR_001739451.1:n.606-1617T>C |