Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11292867C>A , CM000678.2:g.11292867C>A | GRCh38 |
| NC_000016.9:g.11386724C>A , CM000678.1:g.11386724C>A | GRCh37 |
| NC_000016.8:g.11294225C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+43089C>A | ||
| ENST00000572173.1:c.-515-2349C>A | ENSP00000461206.1:n.-515-2349C>A | |
| ENST00000573910.1:n.161-23585C>A | ||
| XR_933070.1:n.733+43089C>A | ||
| XR_933070.3:n.876+43089C>A |