Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060774C>T , CM000681.2:g.49060774C>T | GRCh38 |
| NC_000019.9:g.49564031C>T , CM000681.1:g.49564031C>T | GRCh37 |
| NC_000019.8:g.54255843C>T | NCBI36 |
| NG_016289.1:g.8094G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599795.5:c.243+981G>A | ENSP00000470689.1:n.243+981G>A | |
| XM_011527575.1:c.-22G>A | XP_011525877.1:n.-22G>A | |
| XR_001753693.1:n.879+390G>A | ||
| XR_001753694.1:n.915G>A |