Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10409388G= , CM000681.2:g.10409388G= | GRCh38 |
| NC_000019.9:g.10520064G= , CM000681.1:g.10520064G= | GRCh37 |
| NC_000019.8:g.10381064G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000593124.1:c.-116-5793C= | ENSP00000465724.1:n.-116-5793C= |