Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089245G>C , CM000681.2:g.11089245G>C | GRCh38 |
| NC_000019.9:g.11199921G>C , CM000681.1:g.11199921G>C | GRCh37 |
| NC_000019.8:g.11060921G>C | NCBI36 |
| NG_009060.1:g.4865G>C , LRG_274:g.4865G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.415C>G |