Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81185114A= , CM000677.2:g.81185114A= | GRCh38 |
| NC_000015.9:g.81477455A= , CM000677.1:g.81477455A= | GRCh37 |
| NC_000015.8:g.79264510A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000302987.10:c.40+2218A= | ENSP00000302935.5:n.40+2218A= |
| ENST00000302987.9:c.40+2218A= | ENSP00000302935.5:n.40+2218A= |
| ENST00000360547.9:c.-153+2218A= | ENSP00000456972.1:n.-153+2218A= |
| ENST00000560241.5:c.-102+2218A= | ENSP00000452738.1:n.-102+2218A= |
| XM_005254342.2:c.40+2218A= | XP_005254399.1:n.40+2218A= |