Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10310117A>C , CM000673.2:g.10310117A>C | GRCh38 |
| NC_000011.9:g.10331664A>C , CM000673.1:g.10331664A>C | GRCh37 |
| NC_000011.8:g.10288240A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527261.5:n.361+1444A>C | ||
| NR_103765.1:n.361+1444A>C |