Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133527063A>T , CM000672.2:g.133527063A>T | GRCh38 |
| NC_000010.10:g.135340567A>T , CM000672.1:g.135340567A>T | GRCh37 |
| NC_000010.9:g.135190557A>T | NCBI36 |
| NG_008383.1:g.4701A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000463117.6:c.-40+190A>T | ENSP00000440689.1:n.-40+190A>T |
| ENST00000541261.1:c.-40+190A>T | ENSP00000437799.1:n.-40+190A>T |