Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10419731C>A , CM000668.2:g.10419731C>A | GRCh38 |
| NC_000006.11:g.10419964C>A , CM000668.1:g.10419964C>A | GRCh37 |
| NC_000006.10:g.10527950C>A | NCBI36 |
| NG_016151.1:g.4834G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001042425.2:c.-281G>T | NP_001035890.1:n.-281G>T |
| XM_017011232.1:c.132G>T | XP_016866721.1:p.Gly44= |