Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117068051G>A , CM000672.2:g.117068051G>A | GRCh38 |
| NC_000010.10:g.118827562G>A , CM000672.1:g.118827562G>A | GRCh37 |
| NC_000010.9:g.118817552G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392901.10:c.-188-19541C>T | ENSP00000376635.4:n.-188-19541C>T | |
| ENST00000392901.8:c.-188-19541C>T | ENSP00000376635.4:n.-188-19541C>T | |
| NM_001258300.1:c.-188-19541C>T | NP_001245229.1:n.-188-19541C>T |