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