Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.84458273T>A , CM000675.2:g.84458273T>A | GRCh38 |
| NC_000013.10:g.85032408T>A , CM000675.1:g.85032408T>A | GRCh37 |
| NC_000013.9:g.83930409T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046871.1:n.139-104091T>A | ||
| XR_942133.1:n.369-46354A>T | ||
| XR_942134.1:n.366-46354A>T |