Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922636C>T , CM000676.2:g.102922636C>T | GRCh38 |
| NC_000014.8:g.103388973C>T , CM000676.1:g.103388973C>T | GRCh37 |
| NC_000014.7:g.102458726C>T | NCBI36 |
| NG_008276.2:g.4981C>T , LRG_642:g.4981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011537202.1:c.-234C>T | XP_011535504.1:n.-234C>T | |
| XM_011537202.3:c.-234C>T | XP_011535504.1:n.-234C>T | |
| XM_024449714.1:c.44C>T | XP_024305482.1:p.Thr15Met |