Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36112764A>G , CM000683.2:g.36112764A>G | GRCh38 |
| NC_000021.8:g.37485062A>G , CM000683.1:g.37485062A>G | GRCh37 |
| NC_000021.7:g.36406932A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040084.1:n.154+13723T>C |