Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27323185C>G , CM000664.2:g.27323185C>G | GRCh38 |
| NC_000002.11:g.27546052C>G , CM000664.1:g.27546052C>G | GRCh37 |
| NC_000002.10:g.27399556C>G | NCBI36 |
| NG_008075.1:g.4380G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357186.10:c.18+1248G>C | ENSP00000349713.6:n.18+1248G>C | |
| XM_005264327.2:c.-263G>C | XP_005264384.1:n.-263G>C |