Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226870510G>T , CM000663.2:g.226870510G>T | GRCh38 |
| NC_000001.10:g.227058211G>T , CM000663.1:g.227058211G>T | GRCh37 |
| NC_000001.9:g.225124834G>T | NCBI36 |
| NG_007381.1:g.4939G>T | |
| NG_007381.2:g.5327G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.-350+5G>T | ENSP00000355741.2:n.-350+5G>T | |
| ENST00000524196.6:c.-350+5G>T | ENSP00000429036.2:n.-350+5G>T | |
| ENST00000676884.1:c.-350+5G>T | ENSP00000503200.1:n.-350+5G>T | |
| ENST00000676888.1:c.-350+5G>T | ENSP00000504483.1:n.-350+5G>T | |
| ENST00000524196.5:c.-350+5G>T | ENSP00000429036.1:n.-350+5G>T | |
| XR_949226.1:n.10C>A |