Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7648834C= , CM000679.2:g.7648834C= | GRCh38 |
| NC_000017.10:g.7552152C= , CM000679.1:g.7552152C= | GRCh37 |
| NC_000017.9:g.7492877C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577026.5:c.-6+2133C= | ENSP00000459145.1:n.-6+2133C= | |
| NM_001303263.1:c.-6+2133C= | NP_001290192.1:n.-6+2133C= | |
| NM_001303263.2:c.-6+2133C= | NP_001290192.1:n.-6+2133C= |