Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171867C>A , CM000673.2:g.2171867C>A | GRCh38 |
| NC_000011.9:g.2193097C>A , CM000673.1:g.2193097C>A | GRCh37 |
| NC_000011.8:g.2149673C>A | NCBI36 |
| NG_008128.1:g.4939G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.7:c.-81G>T | ENSP00000325951.3:n.-81G>T | |
| XM_011520335.1:c.-81G>T | XP_011518637.1:n.-81G>T | |
| XM_011520335.2:c.-81G>T | XP_011518637.1:n.-81G>T |