Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106940558C>T , CM000685.2:g.106940558C>T | GRCh38 |
| NC_000023.10:g.106183788C>T , CM000685.1:g.106183788C>T | GRCh37 |
| NC_000023.9:g.106070444C>T | NCBI36 |
| NG_016392.1:g.64687G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000604604.1:c.111+52672G>A | ||
| XM_005262190.3:c.*921G>A | XP_005262247.1:n.*921G>A | |
| XM_006724691.2:c.*921G>A | XP_006724754.1:n.*921G>A | |
| XM_011531027.2:c.*921G>A | XP_011529329.1:n.*921G>A | |
| XM_017029844.1:c.*994G>A | XP_016885333.1:n.*994G>A |