Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102244438G>T , CM000672.2:g.102244438G>T | GRCh38 |
| NC_000010.10:g.104004195G>T , CM000672.1:g.104004195G>T | GRCh37 |
| NC_000010.9:g.103994185G>T | NCBI36 |
| NG_008147.1:g.2037C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001391923.1:c.-11+13522G>T | NP_001378852.1:n.-11+13522G>T |
| NM_001391924.1:c.-148-1206G>T | NP_001378853.1:n.-148-1206G>T |