Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52591640A>G , CM000678.2:g.52591640A>G | GRCh38 |
| NC_000016.9:g.52625552A>G , CM000678.1:g.52625552A>G | GRCh37 |
| NC_000016.8:g.51183053A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033920.1:n.473-573T>C |