Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99528007G>A , CM000672.2:g.99528007G>A | GRCh38 |
| NC_000010.10:g.101287764G>A , CM000672.1:g.101287764G>A | GRCh37 |
| NC_000010.9:g.101277754G>A | NCBI36 |
| NG_016854.1:g.75G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_120618.1:n.376C>T |