Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102798479A>C , CM000673.2:g.102798479A>C | GRCh38 |
| NC_000011.9:g.102669210A>C , CM000673.1:g.102669210A>C | GRCh37 |
| NC_000011.8:g.102174420A>C | NCBI36 |
| NG_011740.1:g.4757T>G | |
| NG_011740.2:g.4757T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038390.1:n.682+357A>C | |
| ENST00000371455.7:n.423+357A>C | |
| ENST00000525739.6:n.682+357A>C | |
| ENST00000544704.1:n.443+357A>C |