Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20354332A= , CM000678.2:g.20354332A= | GRCh38 |
| NC_000016.9:g.20365654A= , CM000678.1:g.20365654A= | GRCh37 |
| NC_000016.8:g.20273155A= | NCBI36 |
| NG_008151.1:g.3384T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000570689.5:c.-40+1862T= | ENSP00000460548.1:n.-40+1862T= |
| XM_011545938.1:c.-40+1862T= | XP_011544240.1:n.-40+1862T= |