Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6722624C= , CM000681.2:g.6722624C= | GRCh38 |
| NC_000019.9:g.6722635C= , CM000681.1:g.6722635C= | GRCh37 |
| NC_000019.8:g.6673635C= | NCBI36 |
| NG_009557.1:g.3028G= , LRG_27:g.3028G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000600744.1:c.-50+817G= | ENSP00000472044.1:n.-50+817G= |