Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102798362A>C , CM000673.2:g.102798362A>C | GRCh38 |
| NC_000011.9:g.102669093A>C , CM000673.1:g.102669093A>C | GRCh37 |
| NC_000011.8:g.102174303A>C | NCBI36 |
| NG_011740.1:g.4874T>G | |
| NG_011740.2:g.4874T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371455.7:n.423+240A>C | ||
| ENST00000525739.6:n.682+240A>C | ||
| ENST00000544704.1:n.443+240A>C | ||
| NR_038390.1:n.682+240A>C |