Linked Data
dbSNP Id:
rs756983568
ExAC:
6:32008562 C / G
gnomAD v2:
6-32008562-C-G
gnomAD v3:
6-32040785-C-G
gnomAD v4:
6-32040785-C-G
COSMIC:
COSN18002175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040785C>G , CM000668.2:g.32040785C>G | GRCh38 |
| NC_000006.11:g.32008562C>G , CM000668.1:g.32008562C>G | GRCh37 |
| NC_000006.10:g.32116541C>G | NCBI36 |
| NG_007941.2:g.7478C>G | |
| NG_008337.2:g.73590G>C | |
| NG_007941.3:g.7481C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1222+14C>G MANE Select | ENSP00000496625.1:n.1222+14C>G | |
| ENST00000418967.6:c.1222+14C>G | ENSP00000408860.2:n.1222+14C>G | |
| ENST00000435122.3:c.1132+14C>G | ENSP00000415043.2:n.1132+14C>G | |
| ENST00000479074.5:n.1363+14C>G | ||
| ENST00000479730.5:n.1338+14C>G | ||
| ENST00000483041.5:n.1391+14C>G | ||
| ENST00000486063.5:n.1201+14C>G | ||
| NM_000500.7:c.1222+14C>G | NP_000491.4:n.1222+14C>G | |
| NM_001128590.3:c.1132+14C>G | NP_001122062.3:n.1132+14C>G | |
| XM_011514314.1:c.817+14C>G | XP_011512616.1:n.817+14C>G | |
| NM_000500.9:c.1222+14C>G MANE Select | NP_000491.4:n.1222+14C>G | |
| NM_001368143.1:c.817+14C>G | NP_001355072.1:n.817+14C>G | |
| NM_001368144.1:c.817+14C>G | NP_001355073.1:n.817+14C>G | |
| NM_001128590.4:c.1132+14C>G | NP_001122062.3:n.1132+14C>G | |
| NM_001368143.2:c.817+14C>G | NP_001355072.1:n.817+14C>G | |
| NM_001368144.2:c.817+14C>G | NP_001355073.1:n.817+14C>G |