Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7648812G>T , CM000679.2:g.7648812G>T | GRCh38 |
| NC_000017.10:g.7552130G>T , CM000679.1:g.7552130G>T | GRCh37 |
| NC_000017.9:g.7492855G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577026.5:c.-6+2111G>T | ENSP00000459145.1:n.-6+2111G>T | |
| NM_001303263.1:c.-6+2111G>T | NP_001290192.1:n.-6+2111G>T | |
| NM_001303263.2:c.-6+2111G>T | NP_001290192.1:n.-6+2111G>T |