Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6722527G>T , CM000681.2:g.6722527G>T | GRCh38 |
| NC_000019.9:g.6722538G>T , CM000681.1:g.6722538G>T | GRCh37 |
| NC_000019.8:g.6673538G>T | NCBI36 |
| NG_009557.1:g.3125C>A , LRG_27:g.3125C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000600744.1:c.-50+914C>A | ENSP00000472044.1:n.-50+914C>A |