Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6722564C>T , CM000681.2:g.6722564C>T | GRCh38 |
| NC_000019.9:g.6722575C>T , CM000681.1:g.6722575C>T | GRCh37 |
| NC_000019.8:g.6673575C>T | NCBI36 |
| NG_009557.1:g.3088G>A , LRG_27:g.3088G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000600744.1:c.-50+877G>A | ENSP00000472044.1:n.-50+877G>A |