Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186680561G>A , CM000663.2:g.186680561G>A | GRCh38 |
| NC_000001.10:g.186649693G>A , CM000663.1:g.186649693G>A | GRCh37 |
| NC_000001.9:g.184916316G>A | NCBI36 |
| NG_028206.2:g.4867C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680451.1:c.-114+143C>T | ENSP00000506242.1:n.-114+143C>T |