Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88263276T= , CM000672.2:g.88263276T= | GRCh38 |
| NC_000010.10:g.90023033T= , CM000672.1:g.90023033T= | GRCh37 |
| NC_000010.9:g.90013013T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011539924.1:c.*28+11657A= | XP_011538226.1:n.*28+11657A= |
| XM_011539924.3:c.*28+11657A= | XP_011538226.1:n.*28+11657A= |
| XM_011539925.1:c.*29-1233A= | XP_011538227.1:n.*29-1233A= |
| XM_017016382.2:c.*28+11657A= | XP_016871871.1:n.*28+11657A= |
| XR_001747122.2:n.2266+11657A= | |
| XR_001747537.2:n.657-106803T= | |
| XR_946176.1:n.315-106803T= |