Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128546982C>A , CM000670.2:g.128546982C>A | GRCh38 |
| NC_000008.10:g.129559228C>A , CM000670.1:g.129559228C>A | GRCh37 |
| NC_000008.9:g.129628410C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121672.1:n.508+14088G>T |