Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102757321G>A , CM000673.2:g.102757321G>A | GRCh38 |
| NC_000011.9:g.102628052G>A , CM000673.1:g.102628052G>A | GRCh37 |
| NC_000011.8:g.102133262G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371455.7:n.324+5895G>A |