Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106940587C>G , CM000685.2:g.106940587C>G | GRCh38 |
| NC_000023.10:g.106183817C>G , CM000685.1:g.106183817C>G | GRCh37 |
| NC_000023.9:g.106070473C>G | NCBI36 |
| NG_016392.1:g.64658G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000604604.1:c.111+52643G>C | ||
| XM_005262190.3:c.*892G>C | XP_005262247.1:n.*892G>C | |
| XM_006724691.2:c.*892G>C | XP_006724754.1:n.*892G>C | |
| XM_011531027.2:c.*892G>C | XP_011529329.1:n.*892G>C | |
| XM_017029844.1:c.*965G>C | XP_016885333.1:n.*965G>C |