Linked Data
ClinVar Variation Id:
1678833
ClinVar RCV Id:
RCV002226147
dbSNP Id:
rs750971564
ExAC:
11:17574683 A / G
gnomAD v2:
11-17574683-A-G
gnomAD v3:
11-17553136-A-G
gnomAD v4:
11-17553136-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553136A>G , CM000673.2:g.17553136A>G | GRCh38 |
| NC_000011.9:g.17574683A>G , CM000673.1:g.17574683A>G | GRCh37 |
| NC_000011.8:g.17531259A>G | NCBI36 |
| NG_033191.1:g.10764A>G | |
| NG_033191.2:g.10764A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.346A>G | ENSP00000382323.2:p.Asn116Asp | |
| ENST00000399397.6:c.310A>G MANE Select | ENSP00000382329.2:p.Asn104Asp | |
| ENST00000399391.6:c.346A>G | ENSP00000382323.2:p.Asn116Asp | |
| ENST00000399397.5:c.310A>G | ENSP00000382329.2:p.Asn104Asp | |
| ENST00000428619.1:c.127A>G | ENSP00000399057.2:p.Asn43Asp | |
| ENST00000498332.5:n.216A>G | ||
| NM_001277269.1:c.346A>G | NP_001264198.1:p.Asn116Asp | |
| NM_001292063.1:c.310A>G | NP_001278992.1:p.Asn104Asp | |
| NM_001277269.2:c.346A>G | NP_001264198.1:p.Asn116Asp | |
| NM_001292063.2:c.310A>G MANE Select | NP_001278992.1:p.Asn104Asp |