Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32012873A>T , CM000683.2:g.32012873A>T | GRCh38 |
| NC_000021.8:g.33385186A>T , CM000683.1:g.33385186A>T | GRCh37 |
| NC_000021.7:g.32307057A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000439107.1:c.328+16925A>T | ENSP00000408219.1:n.328+16925A>T |