Linked Data
ClinVar Variation Id:
1807430
ClinVar RCV Id:
RCV002475387
dbSNP Id:
rs528524868
ExAC:
6:32008458 G / A
gnomAD v2:
6-32008458-G-A
gnomAD v3:
6-32040681-G-A
gnomAD v4:
6-32040681-G-A
COSMIC:
COSM1077771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040681G>A , CM000668.2:g.32040681G>A | GRCh38 |
| NC_000006.11:g.32008458G>A , CM000668.1:g.32008458G>A | GRCh37 |
| NC_000006.10:g.32116437G>A | NCBI36 |
| NG_007941.2:g.7374G>A | |
| NG_008337.2:g.73694C>T | |
| NG_007941.3:g.7377G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1132G>A MANE Select | ENSP00000496625.1:p.Asp378Asn | |
| ENST00000418967.6:c.1132G>A | ENSP00000408860.2:p.Asp378Asn | |
| ENST00000435122.3:c.1042G>A | ENSP00000415043.2:p.Asp348Asn | |
| ENST00000479074.5:n.1273G>A | ||
| ENST00000479730.5:n.1248G>A | ||
| ENST00000483041.5:n.1301G>A | ||
| ENST00000486063.5:n.1111G>A | ||
| NM_000500.7:c.1132G>A | NP_000491.4:p.Asp378Asn | |
| NM_001128590.3:c.1042G>A | NP_001122062.3:p.Asp348Asn | |
| XM_011514314.1:c.727G>A | XP_011512616.1:p.Asp243Asn | |
| NM_000500.9:c.1132G>A MANE Select | NP_000491.4:p.Asp378Asn | |
| NM_001368143.1:c.727G>A | NP_001355072.1:p.Asp243Asn | |
| NM_001368144.1:c.727G>A | NP_001355073.1:p.Asp243Asn | |
| NM_001128590.4:c.1042G>A | NP_001122062.3:p.Asp348Asn | |
| NM_001368143.2:c.727G>A | NP_001355072.1:p.Asp243Asn | |
| NM_001368144.2:c.727G>A | NP_001355073.1:p.Asp243Asn |