Linked Data
dbSNP Id:
rs780412947
ExAC:
6:32007986 C / T
gnomAD v2:
6-32007986-C-T
gnomAD v3:
6-32040209-C-T
gnomAD v4:
6-32040209-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040209C>T , CM000668.2:g.32040209C>T | GRCh38 |
| NC_000006.11:g.32007986C>T , CM000668.1:g.32007986C>T | GRCh37 |
| NC_000006.10:g.32115965C>T | NCBI36 |
| NG_007941.2:g.6902C>T | |
| NG_008337.2:g.74166G>A | |
| NG_007941.3:g.6905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.939+4C>T MANE Select | ENSP00000496625.1:n.939+4C>T | |
| ENST00000418967.6:c.939+4C>T | ENSP00000408860.2:n.939+4C>T | |
| ENST00000435122.3:c.849+4C>T | ENSP00000415043.2:n.849+4C>T | |
| ENST00000479074.5:n.997+4C>T | ||
| ENST00000479730.5:n.1055+4C>T | ||
| ENST00000483041.5:n.1108+4C>T | ||
| ENST00000486063.5:n.919-197C>T | ||
| NM_000500.7:c.939+4C>T | NP_000491.4:n.939+4C>T | |
| NM_001128590.3:c.849+4C>T | NP_001122062.3:n.849+4C>T | |
| XM_011514314.1:c.534+4C>T | XP_011512616.1:n.534+4C>T | |
| NM_000500.9:c.939+4C>T MANE Select | NP_000491.4:n.939+4C>T | |
| NM_001368143.1:c.534+4C>T | NP_001355072.1:n.534+4C>T | |
| NM_001368144.1:c.534+4C>T | NP_001355073.1:n.534+4C>T | |
| NM_001128590.4:c.849+4C>T | NP_001122062.3:n.849+4C>T | |
| NM_001368143.2:c.534+4C>T | NP_001355072.1:n.534+4C>T | |
| NM_001368144.2:c.534+4C>T | NP_001355073.1:n.534+4C>T |