Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102798331T>G , CM000673.2:g.102798331T>G | GRCh38 |
| NC_000011.9:g.102669062T>G , CM000673.1:g.102669062T>G | GRCh37 |
| NC_000011.8:g.102174272T>G | NCBI36 |
| NG_011740.1:g.4905A>C | |
| NG_011740.2:g.4905A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371455.7:n.423+209T>G | ||
| ENST00000525739.6:n.682+209T>G | ||
| ENST00000544704.1:n.443+209T>G | ||
| NR_038390.1:n.682+209T>G |