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