Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8404752C>T , CM000681.2:g.8404752C>T | GRCh38 |
| NC_000019.9:g.8469636C>T , CM000681.1:g.8469636C>T | GRCh37 |
| NC_000019.8:g.8375636C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+40254G>A | ENSP00000264073.6:n.-88+40254G>A |