Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46046508G>T , CM000672.2:g.46046508G>T | GRCh38 |
| NC_000010.10:g.51549314C>A , CM000672.1:g.51549314C>A | GRCh37 |
| NC_000010.9:g.51219320C>A | NCBI36 |
| NG_011551.1:g.4762C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000663171.1:c.-142-129C>A | ENSP00000499419.1:n.-142-129C>A |