Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981826G>A , CM000674.2:g.13981826G>A | GRCh38 |
| NC_000012.11:g.14134760G>A , CM000674.1:g.14134760G>A | GRCh37 |
| NC_000012.10:g.14026027G>A | NCBI36 |
| NG_031854.1:g.3263C>T | |
| NG_031854.2:g.5187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000630791.2:c.-683+90C>T | ENSP00000486677.2:n.-683+90C>T | |
| ENST00000627535.2:c.-448+90C>T | ENSP00000486411.1:n.-448+90C>T | |
| ENST00000630791.1:c.-683+90C>T | ENSP00000486677.1:n.-683+90C>T | |
| XM_011520629.1:c.-683+90C>T | XP_011518931.1:n.-683+90C>T | |
| XM_011520628.2:c.-932C>T | XP_011518930.1:n.-932C>T | |
| XM_011520629.2:c.-683+90C>T | XP_011518931.1:n.-683+90C>T |