Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7776434C>T , CM000686.2:g.7776434C>T | GRCh38 |
| NC_000024.9:g.7644475C>T , CM000686.1:g.7644475C>T | GRCh37 |
| NC_000024.8:g.7704475C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651261.1:n.298+87G>A | ||
| ENST00000652723.1:n.1210+87G>A | ||
| ENST00000442584.2:n.600+87G>A | ||
| ENST00000455527.5:n.187+87G>A |