Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20756079A>T , CM000686.2:g.20756079A>T | GRCh38 |
| NC_000024.9:g.22917965A>T , CM000686.1:g.22917965A>T | GRCh37 |
| NC_000024.8:g.21327353A>T | NCBI36 |
| NG_032924.1:g.5012A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001039567.2:c.-85A>T | NP_001034656.1:n.-85A>T |