Linked Data
gnomAD v4:
6-32038370-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038370C>T , CM000668.2:g.32038370C>T | GRCh38 |
| NC_000006.11:g.32006147C>T , CM000668.1:g.32006147C>T | GRCh37 |
| NC_000006.10:g.32114126C>T | NCBI36 |
| NG_007941.2:g.5066C>T | |
| NG_007941.3:g.5066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418967.6:c.-53C>T | ENSP00000408860.2:n.-53C>T | |
| ENST00000466779.5:c.-53C>T | ENSP00000417321.1:n.-53C>T | |
| ENST00000479074.5:n.6C>T | ||
| ENST00000479730.5:n.6C>T | ||
| ENST00000480027.1:n.1C>T | ||
| ENST00000483041.5:n.1C>T | ||
| ENST00000486063.5:n.31C>T | ||
| NM_000500.7:c.-53C>T | NP_000491.4:n.-53C>T | |
| NM_001128590.3:c.-53C>T | NP_001122062.3:n.-53C>T | |
| XM_011514314.1:c.-477C>T | XP_011512616.1:n.-477C>T | |
| NM_001368143.1:c.-477C>T | NP_001355072.1:n.-477C>T | |
| NM_001368144.1:c.-387C>T | NP_001355073.1:n.-387C>T |