Linked Data
dbSNP Id:
rs757696541
ExAC:
6:32006340 C / T
gnomAD v2:
6-32006340-C-T
gnomAD v3:
6-32038563-C-T
gnomAD v4:
6-32038563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038563C>T , CM000668.2:g.32038563C>T | GRCh38 |
| NC_000006.11:g.32006340C>T , CM000668.1:g.32006340C>T | GRCh37 |
| NC_000006.10:g.32114319C>T | NCBI36 |
| NG_007941.2:g.5256C>T | |
| NG_007941.3:g.5259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.141C>T MANE Select | ENSP00000496625.1:p.Ile47= | |
| ENST00000418967.6:c.141C>T | ENSP00000408860.2:p.Ile47= | |
| ENST00000435122.3:c.141C>T | ENSP00000415043.2:p.Ile47= | |
| ENST00000466779.5:c.141C>T | ENSP00000417321.1:p.Ile47= | |
| ENST00000469053.5:c.141C>T | ENSP00000418104.1:p.Ile47= | |
| ENST00000471671.4:c.141C>T | ENSP00000418561.1:p.Ile47= | |
| ENST00000478281.5:c.141C>T | ENSP00000419572.1:p.Ile47= | |
| ENST00000479074.5:n.199C>T | ||
| ENST00000479730.5:n.199C>T | ||
| ENST00000480027.1:n.194C>T | ||
| ENST00000483041.5:n.194C>T | ||
| ENST00000486063.5:n.224C>T | ||
| ENST00000488465.1:n.149C>T | ||
| NM_000500.7:c.141C>T | NP_000491.4:p.Ile47= | |
| NM_001128590.3:c.141C>T | NP_001122062.3:p.Ile47= | |
| XM_011514314.1:c.-284C>T | XP_011512616.1:n.-284C>T | |
| NM_000500.9:c.141C>T MANE Select | NP_000491.4:p.Ile47= | |
| NM_001368143.1:c.-284C>T | NP_001355072.1:n.-284C>T | |
| NM_001368144.1:c.-194C>T | NP_001355073.1:n.-194C>T | |
| NM_001128590.4:c.141C>T | NP_001122062.3:p.Ile47= | |
| NM_001368143.2:c.-284C>T | NP_001355072.1:n.-284C>T | |
| NM_001368144.2:c.-194C>T | NP_001355073.1:n.-194C>T |