Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78667819A>G , CM000666.2:g.78667819A>G | GRCh38 |
| NC_000004.11:g.79588973A>G , CM000666.1:g.79588973A>G | GRCh37 |
| NC_000004.10:g.79807997A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038303.1:n.473+4808A>G | ||
| NR_038304.1:n.473+4808A>G | ||
| NR_038305.1:n.380-5524A>G | ||
| NR_038306.1:n.380-12942A>G | ||
| NR_038307.1:n.364+4808A>G | ||
| NR_038308.1:n.325+4847A>G |