Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32634402G>T , CM000668.2:g.32634402G>T | GRCh38 |
| NC_000006.11:g.32602179G>T , CM000668.1:g.32602179G>T | GRCh37 |
| NC_000006.10:g.32710157G>T | NCBI36 |
| NG_032876.1:g.1997G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422863.1:c.-39+1493G>T | ENSP00000405797.1:n.-39+1493G>T |