Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922610G>T , CM000676.2:g.102922610G>T | GRCh38 |
| NC_000014.8:g.103388947G>T , CM000676.1:g.103388947G>T | GRCh37 |
| NC_000014.7:g.102458700G>T | NCBI36 |
| NG_008276.2:g.4955G>T , LRG_642:g.4955G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011537202.1:c.-260G>T | XP_011535504.1:n.-260G>T | |
| XM_011537202.3:c.-260G>T | XP_011535504.1:n.-260G>T | |
| XM_024449714.1:c.18G>T | XP_024305482.1:p.Trp6Cys |