Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53823995C>T , CM000676.2:g.53823995C>T | GRCh38 |
| NC_000014.8:g.54290713C>T , CM000676.1:g.54290713C>T | GRCh37 |
| NC_000014.7:g.53360463C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943872.1:n.392+25727G>A | ||
| XR_943873.1:n.299+25820G>A | ||
| XR_943874.1:n.392+25727G>A | ||
| XR_943875.1:n.392+25727G>A | ||
| XR_943878.1:n.330-50509C>T | ||
| XR_001750967.2:n.416+25727G>A | ||
| XR_001750968.1:n.324+25820G>A | ||
| XR_943872.3:n.415+25727G>A | ||
| XR_943873.2:n.322+25820G>A | ||
| XR_943874.3:n.419+25727G>A |