Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105715200C>A , CM000674.2:g.105715200C>A | GRCh38 |
| NC_000012.11:g.106108978C>A , CM000674.1:g.106108978C>A | GRCh37 |
| NC_000012.10:g.104633108C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110108.1:n.54+10944C>A | ||
| NR_110109.1:n.93C>A | ||
| NR_110110.1:n.83+8344C>A | ||
| NR_110111.1:n.83+8344C>A | ||
| NR_110111.2:n.83+8344C>A |