Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53824281T>G , CM000676.2:g.53824281T>G | GRCh38 |
| NC_000014.8:g.54290999T>G , CM000676.1:g.54290999T>G | GRCh37 |
| NC_000014.7:g.53360749T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943872.1:n.392+25441A>C | ||
| XR_943873.1:n.299+25534A>C | ||
| XR_943874.1:n.392+25441A>C | ||
| XR_943875.1:n.392+25441A>C | ||
| XR_943878.1:n.330-50223T>G | ||
| XR_001750967.2:n.416+25441A>C | ||
| XR_001750968.1:n.324+25534A>C | ||
| XR_943872.3:n.415+25441A>C | ||
| XR_943873.2:n.322+25534A>C | ||
| XR_943874.3:n.419+25441A>C |