Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13836328G>A , CM000686.2:g.13836328G>A | GRCh38 |
| NC_000024.9:g.15948208G>A , CM000686.1:g.15948208G>A | GRCh37 |
| NC_000024.8:g.14457602G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652544.1:n.685-22189G>A | ||
| ENST00000430079.5:n.478-18116G>A | ||
| ENST00000460561.1:n.261-22189G>A | ||
| ENST00000472227.5:n.399-22174G>A |