Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089247C>A , CM000681.2:g.11089247C>A | GRCh38 |
| NC_000019.9:g.11199923C>A , CM000681.1:g.11199923C>A | GRCh37 |
| NC_000019.8:g.11060923C>A | NCBI36 |
| NG_009060.1:g.4867C>A , LRG_274:g.4867C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.413G>T |