Linked Data
ClinVar Variation Id:
800605
ClinVar RCV Id:
RCV000984583
dbSNP Id:
rs1257180779
gnomAD v4:
6-32041017-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041017C>A , CM000668.2:g.32041017C>A | GRCh38 |
| NC_000006.11:g.32008794C>A , CM000668.1:g.32008794C>A | GRCh37 |
| NC_000006.10:g.32116773C>A | NCBI36 |
| NG_007941.2:g.7710C>A | |
| NG_008337.2:g.73358G>T | |
| NG_007941.3:g.7713C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1371C>A MANE Select | ENSP00000496625.1:p.Asp457Glu | |
| ENST00000418967.6:c.1371C>A | ENSP00000408860.2:p.Asp457Glu | |
| ENST00000435122.3:c.1281C>A | ENSP00000415043.2:p.Asp427Glu | |
| ENST00000479074.5:n.1512C>A | ||
| ENST00000479730.5:n.1487C>A | ||
| ENST00000483041.5:n.1540C>A | ||
| ENST00000486063.5:n.1350C>A | ||
| NM_000500.7:c.1371C>A | NP_000491.4:p.Asp457Glu | |
| NM_001128590.3:c.1281C>A | NP_001122062.3:p.Asp427Glu | |
| XM_011514314.1:c.966C>A | XP_011512616.1:p.Asp322Glu | |
| NM_000500.9:c.1371C>A MANE Select | NP_000491.4:p.Asp457Glu | |
| NM_001368143.1:c.966C>A | NP_001355072.1:p.Asp322Glu | |
| NM_001368144.1:c.966C>A | NP_001355073.1:p.Asp322Glu | |
| NM_001128590.4:c.1281C>A | NP_001122062.3:p.Asp427Glu | |
| NM_001368143.2:c.966C>A | NP_001355072.1:p.Asp322Glu | |
| NM_001368144.2:c.966C>A | NP_001355073.1:p.Asp322Glu |