Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106940319G>C , CM000685.2:g.106940319G>C | GRCh38 |
| NC_000023.10:g.106183549G>C , CM000685.1:g.106183549G>C | GRCh37 |
| NC_000023.9:g.106070205G>C | NCBI36 |
| NG_016392.1:g.64926C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000604604.1:c.111+52911C>G | ||
| XM_005262190.3:c.*1160C>G | XP_005262247.1:n.*1160C>G | |
| XM_006724691.2:c.*1160C>G | XP_006724754.1:n.*1160C>G | |
| XM_011531027.2:c.*1160C>G | XP_011529329.1:n.*1160C>G | |
| XM_017029844.1:c.*1233C>G | XP_016885333.1:n.*1233C>G |