Linked Data
ClinVar Variation Id:
800616
ClinVar RCV Id:
RCV000984594
dbSNP Id:
rs780875791
ExAC:
6:32007083 G / A
gnomAD v2:
6-32007083-G-A
gnomAD v3:
6-32039306-G-A
gnomAD v4:
6-32039306-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039306G>A , CM000668.2:g.32039306G>A | GRCh38 |
| NC_000006.11:g.32007083G>A , CM000668.1:g.32007083G>A | GRCh37 |
| NC_000006.10:g.32115062G>A | NCBI36 |
| NG_007941.2:g.5999G>A | |
| NG_008337.2:g.75069C>T | |
| NG_007941.3:g.6002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.448-50G>A MANE Select | ENSP00000496625.1:n.448-50G>A | |
| ENST00000418967.6:c.448-50G>A | ENSP00000408860.2:n.448-50G>A | |
| ENST00000435122.3:c.358-50G>A | ENSP00000415043.2:n.358-50G>A | |
| ENST00000462278.1:n.36-50G>A | ||
| ENST00000464325.5:n.369-50G>A | ||
| ENST00000466779.5:c.*140-50G>A | ENSP00000417321.1:n.*140-50G>A | |
| ENST00000466879.5:n.499-50G>A | ||
| ENST00000469053.5:c.*140-50G>A | ENSP00000418104.1:n.*140-50G>A | |
| ENST00000471671.4:c.448-50G>A | ENSP00000418561.1:n.448-50G>A | |
| ENST00000478281.5:c.481-50G>A | ENSP00000419572.1:n.481-50G>A | |
| ENST00000479074.5:n.506-50G>A | ||
| ENST00000479730.5:n.603-50G>A | ||
| ENST00000483041.5:n.617-50G>A | ||
| ENST00000486063.5:n.628-50G>A | ||
| ENST00000488465.1:n.456-50G>A | ||
| NM_000500.7:c.448-50G>A | NP_000491.4:n.448-50G>A | |
| NM_001128590.3:c.358-50G>A | NP_001122062.3:n.358-50G>A | |
| XM_011514314.1:c.43-50G>A | XP_011512616.1:n.43-50G>A | |
| NM_000500.9:c.448-50G>A MANE Select | NP_000491.4:n.448-50G>A | |
| NM_001368143.1:c.43-50G>A | NP_001355072.1:n.43-50G>A | |
| NM_001368144.1:c.43-50G>A | NP_001355073.1:n.43-50G>A | |
| NM_001128590.4:c.358-50G>A | NP_001122062.3:n.358-50G>A | |
| NM_001368143.2:c.43-50G>A | NP_001355072.1:n.43-50G>A | |
| NM_001368144.2:c.43-50G>A | NP_001355073.1:n.43-50G>A |