Linked Data
dbSNP Id:
rs755816115
gnomAD v2:
6-32008754-C-G
gnomAD v3:
6-32040977-C-G
gnomAD v4:
6-32040977-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040977C>G , CM000668.2:g.32040977C>G | GRCh38 |
| NC_000006.11:g.32008754C>G , CM000668.1:g.32008754C>G | GRCh37 |
| NC_000006.10:g.32116733C>G | NCBI36 |
| NG_007941.2:g.7670C>G | |
| NG_008337.2:g.73398G>C | |
| NG_007941.3:g.7673C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1331C>G MANE Select | ENSP00000496625.1:p.Thr444Ser | |
| ENST00000418967.6:c.1331C>G | ENSP00000408860.2:p.Thr444Ser | |
| ENST00000435122.3:c.1241C>G | ENSP00000415043.2:p.Thr414Ser | |
| ENST00000479074.5:n.1472C>G | ||
| ENST00000479730.5:n.1447C>G | ||
| ENST00000483041.5:n.1500C>G | ||
| ENST00000486063.5:n.1310C>G | ||
| NM_000500.7:c.1331C>G | NP_000491.4:p.Thr444Ser | |
| NM_001128590.3:c.1241C>G | NP_001122062.3:p.Thr414Ser | |
| XM_011514314.1:c.926C>G | XP_011512616.1:p.Thr309Ser | |
| NM_000500.9:c.1331C>G MANE Select | NP_000491.4:p.Thr444Ser | |
| NM_001368143.1:c.926C>G | NP_001355072.1:p.Thr309Ser | |
| NM_001368144.1:c.926C>G | NP_001355073.1:p.Thr309Ser | |
| NM_001128590.4:c.1241C>G | NP_001122062.3:p.Thr414Ser | |
| NM_001368143.2:c.926C>G | NP_001355072.1:p.Thr309Ser | |
| NM_001368144.2:c.926C>G | NP_001355073.1:p.Thr309Ser |