Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102785757T>C , CM000673.2:g.102785757T>C | GRCh38 |
| NC_000011.9:g.102656488T>C , CM000673.1:g.102656488T>C | GRCh37 |
| NC_000011.8:g.102161698T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371455.7:n.325-12267T>C | ||
| ENST00000525739.6:n.389+1693T>C | ||
| ENST00000544704.1:n.344+1693T>C | ||
| NR_038390.1:n.389+1693T>C |