Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78360132A= , CM000679.2:g.78360132A= | GRCh38 |
| NC_000017.10:g.76356213A= , CM000679.1:g.76356213A= | GRCh37 |
| NC_000017.9:g.73867808A= | NCBI36 |
| NG_016851.1:g.4946T= , LRG_619:g.4946T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378933.1:c.-89+724T= | NP_001365862.1:n.-89+724T= |