Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8404571C>G , CM000681.2:g.8404571C>G | GRCh38 |
| NC_000019.9:g.8469455C>G , CM000681.1:g.8469455C>G | GRCh37 |
| NC_000019.8:g.8375455C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+40435G>C | ENSP00000264073.6:n.-88+40435G>C |