Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55477894C= , CM000678.2:g.55477894C= | GRCh38 |
| NC_000016.9:g.55511806C= , CM000678.1:g.55511806C= | GRCh37 |
| NC_000016.8:g.54069307C= | NCBI36 |
| NG_008989.1:g.3726C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000570308.5:c.-75-5015C= | ENSP00000461421.1:n.-75-5015C= |