Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108259797A>T , CM000675.2:g.108259797A>T | GRCh38 |
| NC_000013.10:g.108912145A>T , CM000675.1:g.108912145A>T | GRCh37 |
| NC_000013.9:g.107710146A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000486502.1:n.77+8481A>T | |
| XR_931715.1:n.1254-6822A>T |