Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84544635A= , CM000678.2:g.84544635A= | GRCh38 |
| NC_000016.9:g.84578241A= , CM000678.1:g.84578241A= | GRCh37 |
| NC_000016.8:g.83135742A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565079.5:c.-26+9311T= | ENSP00000457557.1:n.-26+9311T= | |
| XM_011523250.1:c.-26+9311T= | XP_011521552.1:n.-26+9311T= |