Linked Data
dbSNP Id:
rs754842757
ExAC:
6:32006926 C / G
gnomAD v2:
6-32006926-C-G
gnomAD v3:
6-32039149-C-G
gnomAD v4:
6-32039149-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039149C>G , CM000668.2:g.32039149C>G | GRCh38 |
| NC_000006.11:g.32006926C>G , CM000668.1:g.32006926C>G | GRCh37 |
| NC_000006.10:g.32114905C>G | NCBI36 |
| NG_007941.2:g.5842C>G | |
| NG_007941.3:g.5845C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.348C>G MANE Select | ENSP00000496625.1:p.Leu116= | |
| ENST00000418967.6:c.348C>G | ENSP00000408860.2:p.Leu116= | |
| ENST00000435122.3:c.258C>G | ENSP00000415043.2:p.Leu86= | |
| ENST00000464325.5:n.269C>G | ||
| ENST00000466779.5:c.*40C>G | ENSP00000417321.1:n.*40C>G | |
| ENST00000466879.5:n.399C>G | ||
| ENST00000469053.5:c.*40C>G | ENSP00000418104.1:n.*40C>G | |
| ENST00000471671.4:c.348C>G | ENSP00000418561.1:p.Leu116= | |
| ENST00000478281.5:c.381C>G | ENSP00000419572.1:p.Leu127= | |
| ENST00000479074.5:n.406C>G | ||
| ENST00000479730.5:n.503C>G | ||
| ENST00000483041.5:n.517C>G | ||
| ENST00000486063.5:n.528C>G | ||
| ENST00000488465.1:n.356C>G | ||
| NM_000500.7:c.348C>G | NP_000491.4:p.Leu116= | |
| NM_001128590.3:c.258C>G | NP_001122062.3:p.Leu86= | |
| XM_011514314.1:c.-58C>G | XP_011512616.1:n.-58C>G | |
| NM_000500.9:c.348C>G MANE Select | NP_000491.4:p.Leu116= | |
| NM_001368143.1:c.-58C>G | NP_001355072.1:n.-58C>G | |
| NM_001368144.1:c.-58C>G | NP_001355073.1:n.-58C>G | |
| NM_001128590.4:c.258C>G | NP_001122062.3:p.Leu86= | |
| NM_001368143.2:c.-58C>G | NP_001355072.1:n.-58C>G | |
| NM_001368144.2:c.-58C>G | NP_001355073.1:n.-58C>G |