Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19514680G>A , CM000663.2:g.19514680G>A | GRCh38 |
| NC_000001.10:g.19841174G>A , CM000663.1:g.19841174G>A | GRCh37 |
| NC_000001.9:g.19713761G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648702.1:c.-54+30025G>A | ENSP00000497006.1:n.-54+30025G>A |
| XR_001737920.1:n.144-3441G>A | |
| XR_947017.1:n.373-2102C>T | |
| XR_947017.2:n.1179-2102C>T | |
| XR_947019.1:n.188+1684G>A | |
| XR_947020.1:n.144-3441G>A | |
| XR_947020.2:n.144-3441G>A |