Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102832897A>T , CM000673.2:g.102832897A>T | GRCh38 |
| NC_000011.9:g.102703628A>T , CM000673.1:g.102703628A>T | GRCh37 |
| NC_000011.8:g.102208838A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525739.6:n.2191A>T | ||
| NR_038390.1:n.2191A>T |