Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.742107C= , CM000678.2:g.742107C= | GRCh38 |
| NC_000016.9:g.792107C= , CM000678.1:g.792107C= | GRCh37 |
| NC_000016.8:g.732108C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620831.4:c.-49-20525C= | ENSP00000482893.1:n.-49-20525C= |