Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39954436T>G , CM000679.2:g.39954436T>G | GRCh38 |
| NC_000017.10:g.38110689T>G , CM000679.1:g.38110689T>G | GRCh37 |
| NC_000017.9:g.35364215T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635792.1:c.-6+1131T>G | ENSP00000490739.1:n.-6+1131T>G |