Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.88707586C>A , CM000667.2:g.88707586C>A | GRCh38 |
| NC_000005.9:g.88003403C>A , CM000667.1:g.88003403C>A | GRCh37 |
| NC_000005.8:g.88039159C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_146284.1:n.180+1930C>A |