Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089266G>T , CM000681.2:g.11089266G>T | GRCh38 |
| NC_000019.9:g.11199942G>T , CM000681.1:g.11199942G>T | GRCh37 |
| NC_000019.8:g.11060942G>T | NCBI36 |
| NG_009060.1:g.4886G>T , LRG_274:g.4886G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.394C>A |