Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55989518T>G , CM000681.2:g.55989518T>G | GRCh38 |
| NC_000019.9:g.56500884T>G , CM000681.1:g.56500884T>G | GRCh37 |
| NC_000019.8:g.61192696T>G | NCBI36 |
| NG_046924.1:g.7736T>G | |
| NG_051553.1:g.46687T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011526444.1:c.-72+2697T>G | XP_011524746.1:n.-72+2697T>G |