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