Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.44637565C>T , CM000676.2:g.44637565C>T | GRCh38 |
| NC_000014.8:g.45106768C>T , CM000676.1:g.45106768C>T | GRCh37 |
| NC_000014.7:g.44176518C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943800.1:n.226-40552G>A | ||
| XR_943801.1:n.226-40552G>A | ||
| XR_943806.1:n.226-40552G>A | ||
| XR_943808.1:n.126+160365G>A |