Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35880776C>T , CM000679.2:g.35880776C>T | GRCh38 |
| NC_000017.9:g.31231893C>T | NCBI36 |
| NG_015990.1:g.4598G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000605140.5:c.-65G>A | ENSP00000475057.1:n.-65G>A |
| ENST00000605509.2:c.-65G>A | ENSP00000474141.2:n.-65G>A |
| XR_001752852.1:n.426+702C>T | |
| XR_934696.1:n.197-3606C>T | |
| XR_934696.2:n.91-3606C>T | |
| XR_934697.1:n.200-3606C>T | |
| XR_934697.2:n.91-3606C>T |