Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122035C>T , CM000663.2:g.193122035C>T | GRCh38 |
| NC_000001.10:g.193091165C>T , CM000663.1:g.193091165C>T | GRCh37 |
| NC_000001.9:g.191357788C>T | NCBI36 |
| NG_012691.1:g.5078C>T , LRG_507:g.5078C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.-166C>T MANE Select | ENSP00000356405.4:n.-166C>T | |
| ENST00000643006.1:c.-166C>T | ENSP00000496633.1:n.-166C>T | |
| ENST00000649895.1:n.53C>T | ||
| ENST00000367435.3:c.-166C>T | ENSP00000356405.3:n.-166C>T | |
| NM_024529.4:c.-166C>T , LRG_507t1:c.-166C>T | NP_078805.3:n.-166C>T | |
| XM_006711537.2:c.-166C>T | XP_006711600.1:n.-166C>T | |
| XM_006711537.4:c.-166C>T | XP_006711600.1:n.-166C>T | |
| XR_001738350.1:n.1622G>A | ||
| NM_024529.5:c.-166C>T MANE Select | NP_078805.3:n.-166C>T |