Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.86585518C>T , CM000663.2:g.86585518C>T | GRCh38 |
| NC_000001.10:g.87051201C>T , CM000663.1:g.87051201C>T | GRCh37 |
| NC_000001.9:g.86823789C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947559.1:n.939-475G>A | ||
| NR_135837.1:n.1293-14110G>A |