Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1852842G>A , CM000673.2:g.1852842G>A | GRCh38 |
| NC_000011.9:g.1874072G>A , CM000673.1:g.1874072G>A | GRCh37 |
| NC_000011.8:g.1830648G>A | NCBI36 |
| NG_011509.1:g.4873G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000676039.1:c.-192-111G>A | ENSP00000502383.1:n.-192-111G>A |