Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8404876C= , CM000681.2:g.8404876C= | GRCh38 |
| NC_000019.9:g.8469760C= , CM000681.1:g.8469760C= | GRCh37 |
| NC_000019.8:g.8375760C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+40130G= | ENSP00000264073.6:n.-88+40130G= |