Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060864C>T , CM000681.2:g.49060864C>T | GRCh38 |
| NC_000019.9:g.49564121C>T , CM000681.1:g.49564121C>T | GRCh37 |
| NC_000019.8:g.54255933C>T | NCBI36 |
| NG_016289.1:g.8004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599795.5:c.243+891G>A | ENSP00000470689.1:n.243+891G>A | |
| XM_011527575.1:c.-112G>A | XP_011525877.1:n.-112G>A | |
| XR_001753693.1:n.879+300G>A | ||
| XR_001753694.1:n.880-55G>A |