Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46046632G>T , CM000672.2:g.46046632G>T | GRCh38 |
| NC_000010.10:g.51549190C>A , CM000672.1:g.51549190C>A | GRCh37 |
| NC_000010.9:g.51219196C>A | NCBI36 |
| NG_011551.1:g.4638C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000663171.1:c.-142-253C>A | ENSP00000499419.1:n.-142-253C>A |