Linked Data
dbSNP Id:
rs1342074925
gnomAD v2:
6-32007211-C-T
gnomAD v3:
6-32039434-C-T
gnomAD v4:
6-32039434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039434C>T , CM000668.2:g.32039434C>T | GRCh38 |
| NC_000006.11:g.32007211C>T , CM000668.1:g.32007211C>T | GRCh37 |
| NC_000006.10:g.32115190C>T | NCBI36 |
| NG_007941.2:g.6127C>T | |
| NG_008337.2:g.74941G>A | |
| NG_007941.3:g.6130C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.526C>T MANE Select | ENSP00000496625.1:p.Leu176Phe | |
| ENST00000418967.6:c.526C>T | ENSP00000408860.2:p.Leu176Phe | |
| ENST00000435122.3:c.436C>T | ENSP00000415043.2:p.Leu146Phe | |
| ENST00000462278.1:n.114C>T | ||
| ENST00000464325.5:n.447C>T | ||
| ENST00000466779.5:c.*218C>T | ENSP00000417321.1:n.*218C>T | |
| ENST00000466879.5:n.577C>T | ||
| ENST00000469053.5:c.*218C>T | ENSP00000418104.1:n.*218C>T | |
| ENST00000471671.4:c.526C>T | ENSP00000418561.1:p.Leu176Phe | |
| ENST00000479074.5:n.584C>T | ||
| ENST00000479730.5:n.681C>T | ||
| ENST00000483041.5:n.695C>T | ||
| ENST00000486063.5:n.706C>T | ||
| ENST00000488465.1:n.534C>T | ||
| NM_000500.7:c.526C>T | NP_000491.4:p.Leu176Phe | |
| NM_001128590.3:c.436C>T | NP_001122062.3:p.Leu146Phe | |
| XM_011514314.1:c.121C>T | XP_011512616.1:p.Leu41Phe | |
| NM_000500.9:c.526C>T MANE Select | NP_000491.4:p.Leu176Phe | |
| NM_001368143.1:c.121C>T | NP_001355072.1:p.Leu41Phe | |
| NM_001368144.1:c.121C>T | NP_001355073.1:p.Leu41Phe | |
| NM_001128590.4:c.436C>T | NP_001122062.3:p.Leu146Phe | |
| NM_001368143.2:c.121C>T | NP_001355072.1:p.Leu41Phe | |
| NM_001368144.2:c.121C>T | NP_001355073.1:p.Leu41Phe |