Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762647T>G , CM000672.2:g.94762647T>G | GRCh38 |
| NC_000010.10:g.96522404T>G , CM000672.1:g.96522404T>G | GRCh37 |
| NC_000010.9:g.96512394T>G | NCBI36 |
| NG_008384.2:g.4942T>G | |
| NG_008384.3:g.4967T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.7:c.-59T>G | ENSP00000360372.3:n.-59T>G | |
| ENST00000464755.1:c.932-12411T>G | ENSP00000483243.1:n.932-12411T>G |