Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133527070C>A , CM000672.2:g.133527070C>A | GRCh38 |
| NC_000010.10:g.135340574C>A , CM000672.1:g.135340574C>A | GRCh37 |
| NC_000010.9:g.135190564C>A | NCBI36 |
| NG_008383.1:g.4708C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463117.6:c.-40+197C>A | ENSP00000440689.1:n.-40+197C>A | |
| ENST00000541261.1:c.-40+197C>A | ENSP00000437799.1:n.-40+197C>A |