Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27323181T>C , CM000664.2:g.27323181T>C | GRCh38 |
| NC_000002.11:g.27546048T>C , CM000664.1:g.27546048T>C | GRCh37 |
| NC_000002.10:g.27399552T>C | NCBI36 |
| NG_008075.1:g.4384A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357186.10:c.18+1252A>G | ENSP00000349713.6:n.18+1252A>G | |
| XM_005264327.2:c.-259A>G | XP_005264384.1:n.-259A>G |