Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34280178C>G , CM000682.2:g.34280178C>G | GRCh38 |
| NC_000020.10:g.32867984C>G , CM000682.1:g.32867984C>G | GRCh37 |
| NC_000020.9:g.32331645C>G | NCBI36 |
| NG_012630.1:g.36625G>C | |
| NG_012630.2:g.36625G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011528657.1:c.*7+849G>C | XP_011526959.1:n.*7+849G>C |
| XM_011528657.2:c.*7+849G>C | XP_011526959.2:n.*7+849G>C |
| XM_011528658.1:c.*7+849G>C | XP_011526960.1:n.*7+849G>C |
| XM_011528658.3:c.*7+849G>C | XP_011526960.2:n.*7+849G>C |
| XM_017027709.2:c.*7+849G>C | XP_016883198.1:n.*7+849G>C |