Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171854G>C , CM000673.2:g.2171854G>C | GRCh38 |
| NC_000011.9:g.2193084G>C , CM000673.1:g.2193084G>C | GRCh37 |
| NC_000011.8:g.2149660G>C | NCBI36 |
| NG_008128.1:g.4952C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.7:c.-68C>G | ENSP00000325951.3:n.-68C>G | |
| XM_011520335.1:c.-68C>G | XP_011518637.1:n.-68C>G | |
| XM_011520335.2:c.-68C>G | XP_011518637.1:n.-68C>G |