Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10369005G>A , CM000673.2:g.10369005G>A | GRCh38 |
| NC_000011.9:g.10390552G>A , CM000673.1:g.10390552G>A | GRCh37 |
| NC_000011.8:g.10347128G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295663.9:n.51-23277G>A | ||
| ENST00000527261.5:n.501+38296G>A | ||
| ENST00000532250.5:c.-6+38296G>A | ENSP00000432707.1:n.-6+38296G>A | |
| ENST00000532966.1:n.119+11614G>A | ||
| NR_103765.1:n.501+38296G>A |