Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65076799C>T , CM000677.2:g.65076799C>T | GRCh38 |
| NC_000015.9:g.65369137C>T , CM000677.1:g.65369137C>T | GRCh37 |
| NC_000015.8:g.63156190C>T | NCBI36 |
| NG_021411.1:g.4984C>T , LRG_682:g.4984C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001101362.3:c.-17C>T MANE Select | NP_001094832.1:n.-17C>T |
| ENST00000432196.5:c.-17C>T MANE Select | ENSP00000388723.2:n.-17C>T |