Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172900G>T , CM000678.2:g.172900G>T | GRCh38 |
| NC_000016.9:g.222899G>T , CM000678.1:g.222899G>T | GRCh37 |
| NC_000016.8:g.162899G>T | NCBI36 |
| NG_000006.1:g.33763G>T | |
| NG_059186.1:g.1250G>T | |
| NG_059271.1:g.5054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.-13G>T MANE Select | ENSP00000251595.6:n.-13G>T | |
| ENST00000251595.10:c.-13G>T | ENSP00000251595.6:n.-13G>T | |
| ENST00000397806.1:c.-60G>T | ENSP00000380908.1:n.-60G>T | |
| ENST00000482565.1:n.7G>T | ||
| NM_000517.4:c.-13G>T | NP_000508.1:n.-13G>T | |
| NM_000517.6:c.-13G>T MANE Select | NP_000508.1:n.-13G>T |