Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92574198A>G , CM000672.2:g.92574198A>G | GRCh38 |
| NC_000010.10:g.94333955A>G , CM000672.1:g.94333955A>G | GRCh37 |
| NC_000010.9:g.94323935A>G | NCBI36 |
| NG_013012.1:g.4898T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000676757.1:c.-131+5A>G | ENSP00000504289.1:n.-131+5A>G |