Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089329A>C , CM000681.2:g.11089329A>C | GRCh38 |
| NC_000019.9:g.11200005A>C , CM000681.1:g.11200005A>C | GRCh37 |
| NC_000019.8:g.11061005A>C | NCBI36 |
| NG_009060.1:g.4949A>C , LRG_274:g.4949A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.331T>G |