Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142330934G>A , CM000667.2:g.142330934G>A | GRCh38 |
| NC_000005.9:g.141710499G>A , CM000667.1:g.141710499G>A | GRCh37 |
| NC_000005.8:g.141690683G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_120664.1:n.78+5564G>A |