Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4652630T>A , CM000666.2:g.4652630T>A | GRCh38 |
| NC_000004.11:g.4654357T>A , CM000666.1:g.4654357T>A | GRCh37 |
| NC_000004.10:g.4705258T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_037888.1:n.818+3088T>A |