Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46046594G>A , CM000672.2:g.46046594G>A | GRCh38 |
| NC_000010.10:g.51549228C>T , CM000672.1:g.51549228C>T | GRCh37 |
| NC_000010.9:g.51219234C>T | NCBI36 |
| NG_011551.1:g.4676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000663171.1:c.-142-215C>T | ENSP00000499419.1:n.-142-215C>T |