Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2172086C>T , CM000673.2:g.2172086C>T | GRCh38 |
| NC_000011.9:g.2193316C>T , CM000673.1:g.2193316C>T | GRCh37 |
| NC_000011.8:g.2149892C>T | NCBI36 |
| NG_008128.1:g.4720G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011520335.1:c.-300G>A | XP_011518637.1:n.-300G>A | |
| XM_011520335.2:c.-300G>A | XP_011518637.1:n.-300G>A |