Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133525740G= , CM000672.2:g.133525740G= | GRCh38 |
| NC_000010.10:g.135339244G= , CM000672.1:g.135339244G= | GRCh37 |
| NC_000010.9:g.135189234G= | NCBI36 |
| NG_008383.1:g.3378G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000463117.6:c.-117-1056G= | ENSP00000440689.1:n.-117-1056G= |
| ENST00000541261.1:c.-118+99G= | ENSP00000437799.1:n.-118+99G= |
| XR_001747676.2:n.1066C= |