Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981909C>T , CM000674.2:g.13981909C>T | GRCh38 |
| NC_000012.11:g.14134843C>T , CM000674.1:g.14134843C>T | GRCh37 |
| NC_000012.10:g.14026110C>T | NCBI36 |
| NG_031854.1:g.3180G>A | |
| NG_031854.2:g.5104G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000627535.2:c.-448+7G>A | ENSP00000486411.1:n.-448+7G>A |
| ENST00000630791.1:c.-683+7G>A | ENSP00000486677.1:n.-683+7G>A |
| ENST00000630791.2:c.-683+7G>A | ENSP00000486677.2:n.-683+7G>A |
| XM_011520629.1:c.-683+7G>A | XP_011518931.1:n.-683+7G>A |
| XM_011520629.2:c.-683+7G>A | XP_011518931.1:n.-683+7G>A |