Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58500365G>C , CM000670.2:g.58500365G>C | GRCh38 |
| NC_000008.10:g.59412924G>C , CM000670.1:g.59412924G>C | GRCh37 |
| NC_000008.9:g.59575478G>C | NCBI36 |
| NG_007969.1:g.4798C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011517476.1:c.-23-244C>G | XP_011515778.1:n.-23-244C>G |