Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536240C>T , CM000679.2:g.42536240C>T | GRCh38 |
| NC_000017.10:g.40688258C>T , CM000679.1:g.40688258C>T | GRCh37 |
| NC_000017.9:g.37941784C>T | NCBI36 |
| NG_011552.1:g.5308C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.6:c.-33C>T | ENSP00000225927.1:n.-33C>T | |
| NM_000263.3:c.-33C>T | NP_000254.2:n.-33C>T | |
| XM_024450771.1:c.-33C>T | XP_024306539.1:n.-33C>T |