Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8404489T>C , CM000681.2:g.8404489T>C | GRCh38 |
| NC_000019.9:g.8469373T>C , CM000681.1:g.8469373T>C | GRCh37 |
| NC_000019.8:g.8375373T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+40517A>G | ENSP00000264073.6:n.-88+40517A>G |