Linked Data
ClinVar Variation Id:
2407407
ClinVar RCV Id:
RCV004237687
dbSNP Id:
rs759543022
ExAC:
11:48134463 G / A
gnomAD v2:
11-48134463-G-A
gnomAD v3:
11-48112911-G-A
gnomAD v4:
11-48112911-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48112911G>A , CM000673.2:g.48112911G>A | GRCh38 |
| NC_000011.9:g.48134463G>A , CM000673.1:g.48134463G>A | GRCh37 |
| NC_000011.8:g.48091039G>A | NCBI36 |
| NG_012209.1:g.137354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.622G>A | ENSP00000514003.1:p.Asp208Asn | |
| ENST00000418331.7:c.280G>A MANE Select | ENSP00000400010.2:p.Asp94Asn | |
| ENST00000418331.6:c.280G>A | ENSP00000400010.2:p.Asp94Asn | |
| ENST00000440289.6:c.280G>A | ENSP00000409733.2:p.Asp94Asn | |
| ENST00000526550.1:n.354G>A | ||
| ENST00000527952.1:c.280G>A | ENSP00000435618.1:p.Asp94Asn | |
| ENST00000534219.5:c.115+2835G>A | ENSP00000432686.1:n.115+2835G>A | |
| ENST00000613246.4:c.280G>A | ENSP00000477933.1:p.Asp94Asn | |
| ENST00000615445.4:c.280G>A | ENSP00000479342.1:p.Asp94Asn | |
| NM_001098503.1:c.280G>A | NP_001091973.1:p.Asp94Asn | |
| NM_002843.3:c.280G>A | NP_002834.3:p.Asp94Asn | |
| XM_011520249.1:c.313G>A | XP_011518551.1:p.Asp105Asn | |
| XR_930883.1:n.630G>A | ||
| XM_017018083.1:c.622G>A | XP_016873572.1:p.Asp208Asn | |
| XM_017018084.1:c.301G>A | XP_016873573.1:p.Asp101Asn | |
| XM_017018085.1:c.232G>A | XP_016873574.1:p.Asp78Asn | |
| XR_930883.2:n.689G>A | ||
| NM_002843.4:c.280G>A MANE Select | NP_002834.3:p.Asp94Asn | |
| NM_001098503.2:c.280G>A | NP_001091973.1:p.Asp94Asn |