Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.198898328C>T , CM000663.2:g.198898328C>T | GRCh38 |
| NC_000001.10:g.198867457C>T , CM000663.1:g.198867457C>T | GRCh37 |
| NC_000001.9:g.197134080C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040073.1:n.363+2083G>A |