Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.69080145G>A , CM000670.2:g.69080145G>A | GRCh38 |
| NC_000008.10:g.69992380G>A , CM000670.1:g.69992380G>A | GRCh37 |
| NC_000008.9:g.70154934G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_039986.1:n.194-11596C>T |