Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.715725T>C , CM000679.2:g.715725T>C | GRCh38 |
| NC_000017.10:g.618965T>C , CM000679.1:g.618965T>C | GRCh37 |
| NC_000017.9:g.565715T>C | NCBI36 |
| NG_034190.1:g.4132A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000576019.5:c.-282-5112A>G | ENSP00000461429.1:n.-282-5112A>G |
| ENST00000680704.1:c.-282-5112A>G | ENSP00000506453.1:n.-282-5112A>G |