Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.8440615G>A , CM000667.2:g.8440615G>A | GRCh38 |
| NC_000005.9:g.8440728G>A , CM000667.1:g.8440728G>A | GRCh37 |
| NC_000005.8:g.8493728G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_039984.1:n.174+11608C>T |