Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35880401G>C , CM000679.2:g.35880401G>C | GRCh38 |
| NC_000017.9:g.31231518G>C | NCBI36 |
| NG_015990.1:g.4973C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000603197.6:c.-96C>G | ENSP00000474412.1:n.-96C>G | |
| ENST00000605509.2:c.-17-79C>G | ENSP00000474141.2:n.-17-79C>G | |
| ENST00000603197.5:c.-96C>G | ENSP00000474412.1:n.-96C>G | |
| ENST00000605140.5:c.-17-79C>G | ENSP00000475057.1:n.-17-79C>G | |
| XR_934696.1:n.197-3981G>C | ||
| XR_934697.1:n.200-3981G>C | ||
| XR_001752852.1:n.426+327G>C | ||
| XR_934696.2:n.91-3981G>C | ||
| XR_934697.2:n.91-3981G>C |