Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39581151G>T , CM000677.2:g.39581151G>T | GRCh38 |
| NC_000015.9:g.39873352G>T , CM000677.1:g.39873352G>T | GRCh37 |
| NC_000015.8:g.37660644G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260356.6:c.-107G>T MANE Select | ENSP00000260356.5:n.-107G>T | |
| ENST00000260356.5:c.-107G>T | ENSP00000260356.5:n.-107G>T | |
| ENST00000397591.2:c.-228G>T | ENSP00000380720.2:n.-228G>T | |
| NM_003246.2:c.-107G>T | NP_003237.2:n.-107G>T | |
| NM_003246.3:c.-107G>T | NP_003237.2:n.-107G>T | |
| XM_011521970.1:c.-228G>T | XP_011520272.1:n.-228G>T | |
| XM_011521971.1:c.-107G>T | XP_011520273.1:n.-107G>T | |
| XR_931897.1:n.69G>T | ||
| XM_011521971.2:c.-107G>T | XP_011520273.1:n.-107G>T | |
| NM_003246.4:c.-107G>T MANE Select | NP_003237.2:n.-107G>T |