Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186681246T>A , CM000663.2:g.186681246T>A | GRCh38 |
| NC_000001.10:g.186650378T>A , CM000663.1:g.186650378T>A | GRCh37 |
| NC_000001.9:g.184917001T>A | NCBI36 |
| NG_028206.2:g.4182A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125801.1:n.593T>A |