Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8404913C>A , CM000681.2:g.8404913C>A | GRCh38 |
| NC_000019.9:g.8469797C>A , CM000681.1:g.8469797C>A | GRCh37 |
| NC_000019.8:g.8375797C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351593.9:c.-88+40093G>T | ENSP00000264073.6:n.-88+40093G>T |