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