Linked Data
gnomAD v4:
6-32038375-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038375G>T , CM000668.2:g.32038375G>T | GRCh38 |
| NC_000006.11:g.32006152G>T , CM000668.1:g.32006152G>T | GRCh37 |
| NC_000006.10:g.32114131G>T | NCBI36 |
| NG_007941.2:g.5071G>T | |
| NG_007941.3:g.5071G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418967.6:c.-48G>T | ENSP00000408860.2:n.-48G>T | |
| ENST00000466779.5:c.-48G>T | ENSP00000417321.1:n.-48G>T | |
| ENST00000479074.5:n.11G>T | ||
| ENST00000479730.5:n.11G>T | ||
| ENST00000480027.1:n.6G>T | ||
| ENST00000483041.5:n.6G>T | ||
| ENST00000486063.5:n.36G>T | ||
| NM_000500.7:c.-48G>T | NP_000491.4:n.-48G>T | |
| NM_001128590.3:c.-48G>T | NP_001122062.3:n.-48G>T | |
| XM_011514314.1:c.-472G>T | XP_011512616.1:n.-472G>T | |
| NM_001368143.1:c.-472G>T | NP_001355072.1:n.-472G>T | |
| NM_001368144.1:c.-382G>T | NP_001355073.1:n.-382G>T |