Linked Data
dbSNP Id:
rs772680196
ExAC:
6:32007787 C / G
gnomAD v2:
6-32007787-C-G
gnomAD v4:
6-32040010-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040010C>G , CM000668.2:g.32040010C>G | GRCh38 |
| NC_000006.11:g.32007787C>G , CM000668.1:g.32007787C>G | GRCh37 |
| NC_000006.10:g.32115766C>G | NCBI36 |
| NG_007941.2:g.6703C>G | |
| NG_008337.2:g.74365G>C | |
| NG_007941.3:g.6706C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.744C>G MANE Select | ENSP00000496625.1:p.Ser248Arg | |
| ENST00000418967.6:c.744C>G | ENSP00000408860.2:p.Ser248Arg | |
| ENST00000435122.3:c.654C>G | ENSP00000415043.2:p.Ser218Arg | |
| ENST00000479074.5:n.802C>G | ||
| ENST00000479730.5:n.860C>G | ||
| ENST00000483041.5:n.913C>G | ||
| ENST00000486063.5:n.918+175C>G | ||
| NM_000500.7:c.744C>G | NP_000491.4:p.Ser248Arg | |
| NM_001128590.3:c.654C>G | NP_001122062.3:p.Ser218Arg | |
| XM_011514314.1:c.339C>G | XP_011512616.1:p.Ser113Arg | |
| NM_000500.9:c.744C>G MANE Select | NP_000491.4:p.Ser248Arg | |
| NM_001368143.1:c.339C>G | NP_001355072.1:p.Ser113Arg | |
| NM_001368144.1:c.339C>G | NP_001355073.1:p.Ser113Arg | |
| NM_001128590.4:c.654C>G | NP_001122062.3:p.Ser218Arg | |
| NM_001368143.2:c.339C>G | NP_001355072.1:p.Ser113Arg | |
| NM_001368144.2:c.339C>G | NP_001355073.1:p.Ser113Arg |