Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4951379A= , CM000678.2:g.4951379A= | GRCh38 |
| NC_000016.9:g.5001380A= , CM000678.1:g.5001380A= | GRCh37 |
| NC_000016.8:g.4941381A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000592772.1:c.-92+9185T= | ENSP00000467699.1:n.-92+9185T= |