Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72189938G>T , CM000673.2:g.72189938G>T | GRCh38 |
| NC_000011.9:g.71900982G>T , CM000673.1:g.71900982G>T | GRCh37 |
| NC_000011.8:g.71578630G>T | NCBI36 |
| NG_015863.1:g.5381G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312293.9:c.-9+179G>T | ENSP00000308137.4:n.-9+179G>T | |
| ENST00000675784.1:c.-9+7G>T | ENSP00000502440.1:n.-9+7G>T | |
| ENST00000312293.8:c.-9+179G>T | ENSP00000308137.4:n.-9+179G>T | |
| ENST00000393681.6:c.-75+179G>T | ENSP00000377286.2:n.-75+179G>T | |
| NM_000802.3:c.-9+7G>T | NP_000793.1:n.-9+7G>T | |
| NM_016724.2:c.-75+179G>T | NP_057936.1:n.-75+179G>T | |
| NM_016725.2:c.-9+179G>T | NP_057937.1:n.-9+179G>T | |
| NM_016724.3:c.-75+179G>T | NP_057936.1:n.-75+179G>T | |
| NM_016725.3:c.-9+179G>T | NP_057937.1:n.-9+179G>T |