Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78033777G= , CM000672.2:g.78033777G= | GRCh38 |
| NC_000010.10:g.79793535G= , CM000672.1:g.79793535G= | GRCh37 |
| NC_000010.9:g.79463541G= | NCBI36 |
| NG_012633.1:g.5018G= | |
| NG_029648.1:g.764C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613865.5:c.-125G= | ENSP00000478869.2:n.-125G= | |
| ENST00000435275.5:c.-125G= | ENSP00000415549.1:n.-125G= | |
| ENST00000440692.5:c.-125G= | ENSP00000414321.1:n.-125G= | |
| ENST00000613865.4:c.-125G= | ENSP00000478869.1:n.-125G= | |
| NM_001026.4:c.-125G= | NP_001017.1:n.-125G= | |
| NM_001142282.1:c.-125G= | NP_001135754.1:n.-125G= | |
| NM_001142283.1:c.-125G= | NP_001135755.1:n.-125G= | |
| NM_001142284.1:c.-125G= | NP_001135756.1:n.-125G= | |
| NM_001142285.1:c.-125G= | NP_001135757.1:n.-125G= | |
| NM_033022.3:c.-125G= | NP_148982.1:n.-125G= |