Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102785785C>G , CM000673.2:g.102785785C>G | GRCh38 |
| NC_000011.9:g.102656516C>G , CM000673.1:g.102656516C>G | GRCh37 |
| NC_000011.8:g.102161726C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371455.7:n.325-12239C>G | ||
| ENST00000525739.6:n.389+1721C>G | ||
| ENST00000544704.1:n.344+1721C>G | ||
| NR_038390.1:n.389+1721C>G |