Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.181688712G>T , CM000666.2:g.181688712G>T | GRCh38 |
| NC_000004.11:g.182609865G>T , CM000666.1:g.182609865G>T | GRCh37 |
| NC_000004.10:g.182846859G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939532.1:n.155-50775G>T | ||
| XM_017008385.1:c.-399-50775G>T | XP_016863874.1:n.-399-50775G>T | |
| XM_017008389.1:c.-399-50775G>T | XP_016863878.1:n.-399-50775G>T | |
| XM_017008390.1:c.-399-50775G>T | XP_016863879.1:n.-399-50775G>T | |
| XM_017008391.1:c.-399-50775G>T | XP_016863880.1:n.-399-50775G>T | |
| XM_017008392.1:c.-399-50775G>T | XP_016863881.1:n.-399-50775G>T | |
| XM_017008393.1:c.-399-50775G>T | XP_016863882.1:n.-399-50775G>T | |
| XM_017008394.1:c.-399-50775G>T | XP_016863883.1:n.-399-50775G>T |