Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317236C>G , CM000673.2:g.117317236C>G | GRCh38 |
| NC_000011.9:g.117187952C>G , CM000673.1:g.117187952C>G | GRCh37 |
| NC_000011.8:g.116693162C>G | NCBI36 |
| NG_029372.1:g.4021G>C | |
| NG_033032.1:g.459C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525734.5:c.-98+2508C>G | ENSP00000436609.1:n.-98+2508C>G | |
| XM_017017364.1:c.-98+703C>G | XP_016872853.1:n.-98+703C>G |