Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089273G>C , CM000681.2:g.11089273G>C | GRCh38 |
| NC_000019.9:g.11199949G>C , CM000681.1:g.11199949G>C | GRCh37 |
| NC_000019.8:g.11060949G>C | NCBI36 |
| NG_009060.1:g.4893G>C , LRG_274:g.4893G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.387C>G |