Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762642T>A , CM000672.2:g.94762642T>A | GRCh38 |
| NC_000010.10:g.96522399T>A , CM000672.1:g.96522399T>A | GRCh37 |
| NC_000010.9:g.96512389T>A | NCBI36 |
| NG_008384.2:g.4937T>A | |
| NG_008384.3:g.4962T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.7:c.-64T>A | ENSP00000360372.3:n.-64T>A | |
| ENST00000464755.1:c.932-12416T>A | ENSP00000483243.1:n.932-12416T>A |