Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14436798G>T , CM000672.2:g.14436798G>T | GRCh38 |
| NC_000010.10:g.14478797G>T , CM000672.1:g.14478797G>T | GRCh37 |
| NC_000010.9:g.14518803G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475141.2:c.-305+25270C>A | ENSP00000473870.1:n.-305+25270C>A | |
| ENST00000493380.5:c.-82+25270C>A | ENSP00000474863.1:n.-82+25270C>A |