Linked Data
dbSNP Id:
rs756598451
ExAC:
6:32008134 T / G
gnomAD v2:
6-32008134-T-G
gnomAD v4:
6-32040357-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040357T>G , CM000668.2:g.32040357T>G | GRCh38 |
| NC_000006.11:g.32008134T>G , CM000668.1:g.32008134T>G | GRCh37 |
| NC_000006.10:g.32116113T>G | NCBI36 |
| NG_007941.2:g.7050T>G | |
| NG_008337.2:g.74018A>C | |
| NG_007941.3:g.7053T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.940-49T>G MANE Select | ENSP00000496625.1:n.940-49T>G | |
| ENST00000418967.6:c.940-49T>G | ENSP00000408860.2:n.940-49T>G | |
| ENST00000435122.3:c.850-49T>G | ENSP00000415043.2:n.850-49T>G | |
| ENST00000479074.5:n.998-49T>G | ||
| ENST00000479730.5:n.1056-49T>G | ||
| ENST00000483041.5:n.1109-49T>G | ||
| ENST00000486063.5:n.919-49T>G | ||
| NM_000500.7:c.940-49T>G | NP_000491.4:n.940-49T>G | |
| NM_001128590.3:c.850-49T>G | NP_001122062.3:n.850-49T>G | |
| XM_011514314.1:c.535-49T>G | XP_011512616.1:n.535-49T>G | |
| NM_000500.9:c.940-49T>G MANE Select | NP_000491.4:n.940-49T>G | |
| NM_001368143.1:c.535-49T>G | NP_001355072.1:n.535-49T>G | |
| NM_001368144.1:c.535-49T>G | NP_001355073.1:n.535-49T>G | |
| NM_001128590.4:c.850-49T>G | NP_001122062.3:n.850-49T>G | |
| NM_001368143.2:c.535-49T>G | NP_001355072.1:n.535-49T>G | |
| NM_001368144.2:c.535-49T>G | NP_001355073.1:n.535-49T>G |