Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.5857239A>G , CM000680.2:g.5857239A>G | GRCh38 |
| NC_000018.9:g.5857238A>G , CM000680.1:g.5857238A>G | GRCh37 |
| NC_000018.8:g.5847238A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_172494.1:n.603-21204A>G | ||
| NR_172495.1:n.603-19014A>G | ||
| NR_172496.1:n.603-19014A>G | ||
| NR_172497.1:n.603-19014A>G | ||
| NR_172498.1:n.663-9874A>G | ||
| NR_172499.1:n.603-19014A>G | ||
| NR_172500.1:n.603-19014A>G | ||
| NR_172501.1:n.603-19014A>G | ||
| NR_172502.1:n.603-19014A>G | ||
| NR_172503.1:n.603-19014A>G |