| HGVS | Genome Assembly | 
|---|---|
| NC_000014.9:g.20793574C>G , CM000676.2:g.20793574C>G | GRCh38 | 
| NC_000014.8:g.21261733C>G , CM000676.1:g.21261733C>G | GRCh37 | 
| NC_000014.7:g.20331573C>G | NCBI36 | 
| HGVS | Amino-acid Change | 
|---|---|
| XR_001750620.1:n.3271+788C>G | |
| XR_001750621.1:n.3271+788C>G | |
| XR_001750622.1:n.637+6330G>C | |
| XR_001750623.1:n.637+6330G>C | |
| XR_001750624.1:n.637+6330G>C | |
| XR_943584.1:n.585+788C>G | |
| XR_943585.1:n.585+788C>G |