Linked Data
dbSNP Id:
rs747482395
ExAC:
6:32007872 C / T
gnomAD v2:
6-32007872-C-T
gnomAD v3:
6-32040095-C-T
gnomAD v4:
6-32040095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040095C>T , CM000668.2:g.32040095C>T | GRCh38 |
| NC_000006.11:g.32007872C>T , CM000668.1:g.32007872C>T | GRCh37 |
| NC_000006.10:g.32115851C>T | NCBI36 |
| NG_007941.2:g.6788C>T | |
| NG_008337.2:g.74280G>A | |
| NG_007941.3:g.6791C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.829C>T MANE Select | ENSP00000496625.1:p.Leu277Phe | |
| ENST00000418967.6:c.829C>T | ENSP00000408860.2:p.Leu277Phe | |
| ENST00000435122.3:c.739C>T | ENSP00000415043.2:p.Leu247Phe | |
| ENST00000479074.5:n.887C>T | ||
| ENST00000479730.5:n.945C>T | ||
| ENST00000483041.5:n.998C>T | ||
| ENST00000486063.5:n.918+260C>T | ||
| NM_000500.7:c.829C>T | NP_000491.4:p.Leu277Phe | |
| NM_001128590.3:c.739C>T | NP_001122062.3:p.Leu247Phe | |
| XM_011514314.1:c.424C>T | XP_011512616.1:p.Leu142Phe | |
| NM_000500.9:c.829C>T MANE Select | NP_000491.4:p.Leu277Phe | |
| NM_001368143.1:c.424C>T | NP_001355072.1:p.Leu142Phe | |
| NM_001368144.1:c.424C>T | NP_001355073.1:p.Leu142Phe | |
| NM_001128590.4:c.739C>T | NP_001122062.3:p.Leu247Phe | |
| NM_001368143.2:c.424C>T | NP_001355072.1:p.Leu142Phe | |
| NM_001368144.2:c.424C>T | NP_001355073.1:p.Leu142Phe |