Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.42495991C>G , CM000680.2:g.42495991C>G | GRCh38 |
| NC_000018.9:g.40075956C>G , CM000680.1:g.40075956C>G | GRCh37 |
| NC_000018.8:g.38329954C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046174.2:n.872+41002C>G | ||
| NR_046454.1:n.653-20128C>G | ||
| NR_046455.1:n.490-20128C>G |