Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.22069769C>T , CM000682.2:g.22069769C>T | GRCh38 |
| NC_000020.10:g.22050407C>T , CM000682.1:g.22050407C>T | GRCh37 |
| NC_000020.9:g.21998407C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_038394.1:n.445+1081C>T |