Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133527044A>G , CM000672.2:g.133527044A>G | GRCh38 |
| NC_000010.10:g.135340548A>G , CM000672.1:g.135340548A>G | GRCh37 |
| NC_000010.9:g.135190538A>G | NCBI36 |
| NG_008383.1:g.4682A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000463117.6:c.-40+171A>G | ENSP00000440689.1:n.-40+171A>G |
| ENST00000541261.1:c.-40+171A>G | ENSP00000437799.1:n.-40+171A>G |