Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171857G>T , CM000673.2:g.2171857G>T | GRCh38 |
| NC_000011.9:g.2193087G>T , CM000673.1:g.2193087G>T | GRCh37 |
| NC_000011.8:g.2149663G>T | NCBI36 |
| NG_008128.1:g.4949C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.7:c.-71C>A | ENSP00000325951.3:n.-71C>A | |
| XM_011520335.1:c.-71C>A | XP_011518637.1:n.-71C>A | |
| XM_011520335.2:c.-71C>A | XP_011518637.1:n.-71C>A |