Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63362813G= , CM000682.2:g.63362813G= | GRCh38 |
| NC_000020.10:g.61994165G= , CM000682.1:g.61994165G= | GRCh37 |
| NC_000020.9:g.61464609G= | NCBI36 |
| NG_011931.1:g.3531C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110634.1:n.306+872G= | |
| ENST00000463705.5:n.1031+11068C= | |
| ENST00000675470.1:c.-964-295C= | ENSP00000502096.1:n.-964-295C= |
| XM_017027625.2:c.-470-3114C= | XP_016883114.1:n.-470-3114C= |