| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.55951401G>C , CM000676.2:g.55951401G>C | GRCh38 |
| NC_000014.8:g.56418119G>C , CM000676.1:g.56418119G>C | GRCh37 |
| NC_000014.7:g.55487872G>C | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001750770.1:n.364-6561G>C | |
| XR_429364.2:n.164-6561G>C | |
| XR_943897.1:n.164-6561G>C |