Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66240115C= , CM000679.2:g.66240115C= | GRCh38 |
| NC_000017.10:g.64236233C= , CM000679.1:g.64236233C= | GRCh37 |
| NC_000017.9:g.61666695C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000577982.1:c.-43-10693G= | ENSP00000464301.1:n.-43-10693G= |