Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73975451T>C , CM000664.2:g.73975451T>C | GRCh38 |
| NC_000002.11:g.74202578T>C , CM000664.1:g.74202578T>C | GRCh37 |
| NC_000002.10:g.74056086T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_104029.1:n.331+5658A>G | |
| NR_104030.1:n.305+5684A>G |