| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.97154685T>C , CM000670.2:g.97154685T>C | GRCh38 |
| NC_000008.10:g.98166913T>C , CM000670.1:g.98166913T>C | GRCh37 |
| NC_000008.9:g.98236089T>C | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| NR_125390.1:n.472-201075A>G | |
| XR_928434.1:n.1748+4013T>C | |
| XR_928434.2:n.1770+4013T>C | |
| XR_928435.1:n.1748+4013T>C |