Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10005695A>T , CM000682.2:g.10005695A>T | GRCh38 |
| NC_000020.10:g.9986343A>T , CM000682.1:g.9986343A>T | GRCh37 |
| NC_000020.9:g.9934343A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_109861.1:n.188-818A>T (PARAL1) | |
| ENST00000437504.1:n.394+19176A>T (ANKEF1) |