Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89920951A>T , CM000678.2:g.89920951A>T | GRCh38 |
| NC_000016.9:g.89987359A>T , CM000678.1:g.89987359A>T | GRCh37 |
| NC_000016.8:g.88514860A>T | NCBI36 |
| NG_012026.1:g.8073A>T | |
| NG_027810.1:g.3943A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.*739A>T MANE Select | ENSP00000451605.1:n.*739A>T | |
| ENST00000639847.1:c.*739A>T | ENSP00000492011.1:n.*739A>T | |
| ENST00000555147.1:c.*739A>T | ENSP00000451605.1:n.*739A>T | |
| ENST00000555427.1:c.*163A>T | ENSP00000451760.1:n.*163A>T | |
| ENST00000556922.1:c.1098+214A>T | ENSP00000451560.1:n.1098+214A>T | |
| NM_002386.3:c.*739A>T | NP_002377.4:n.*739A>T | |
| NM_002386.4:c.*739A>T MANE Select | NP_002377.4:n.*739A>T |