dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12287696G>T , CM000665.2:g.12287696G>T | GRCh38 |
| NC_000003.11:g.12329195G>T , CM000665.1:g.12329195G>T | GRCh37 |
| NC_000003.10:g.12304195G>T | NCBI36 |
| NG_011749.1:g.4847G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397010.7:c.-83+21G>T | ENSP00000380205.3:n.-83+21G>T | |
| ENST00000397029.8:c.-9+21G>T | ENSP00000380224.4:n.-9+21G>T | |
| ENST00000397010.6:c.-77+21G>T | ENSP00000380205.2:n.-77+21G>T | |
| ENST00000397029.7:c.-3+21G>T | ENSP00000380224.3:n.-3+21G>T | |
| NM_001354666.1:c.-77+21G>T | NP_001341595.1:n.-77+21G>T | |
| NM_001354666.2:c.-77+21G>T | NP_001341595.1:n.-77+21G>T | |
| NM_001354666.3:c.-83+21G>T | NP_001341595.2:n.-83+21G>T |